All Stories

  1. Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development
  2. SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome
  3. Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development
  4. Retrospective Analysis of Prognostic Factors in Pediatric Patients with Adrenocortical Tumor from Unique Tertiary Center with Long-Term Follow-Up
  5. Cardiopulmonary capacity and muscle strength in transgender women on long-term gender-affirming hormone therapy: a cross-sectional study
  6. Mild Androgen Insensitivity Syndrome: The Current Landscape
  7. The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty
  8. High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
  9. A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions
  10. Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities
  11. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
  12. Adult Height of Patients with <b><i>SHOX</i></b> Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
  13. Genetics of ovarian insufficiency and defects of folliculogenesis
  14. Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital
  15. The Molecular Basis of 5α-Reductase Type 2 Deficiency
  16. The Use of Genetics for Reaching a Diagnosis in XY DSD
  17. A Small Supernumerary Xp Marker Chromosome Including Genes <b><i>NR0B1</i></b> and <b><i>MAGEB</i></b> Causing Partial Gonadal Dysgenesis and Gonadoblastoma
  18. Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
  19. WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease
  20. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
  21. Primary Adrenal Insufficiency Due to Bilateral Adrenal Infarction in COVID-19
  22. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
  23. Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg)
  24. Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia
  25. The phenotypic spectrum associated with OTX2 mutations in humans
  26. The Cost-Effectiveness of Congenital Adrenal Hyperplasia Newborn Screening in Brazil: A Comparison Between Screened and Unscreened Cohorts
  27. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry
  28. Management of functioning pediatric adrenal tumors
  29. Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas
  30. High-throughput splicing assays identify missense and silent splice-disruptivePOU1F1variants underlying pituitary hormone deficiency
  31. Low Protein Expression of both ATRX and ZNRF3 as Novel Negative Prognostic Markers of Adult Adrenocortical Carcinoma
  32. SDHB large deletions are associated with absence of MIBG uptake in metastatic lesions of malignant paragangliomas
  33. Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review
  34. Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development
  35. Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism
  36. Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations
  37. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies
  38. Role of the Mevalonate Pathway in Adrenocortical Tumorigenesis
  39. Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil
  40. Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood
  41. Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency
  42. Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis
  43. Real-World Estimates of Adrenal Insufficiency–Related Adverse Events in Children With Congenital Adrenal Hyperplasia
  44. Anorexia as the first clinical manifestation of von Hippel‑Lindau syndrome
  45. A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia
  46. XAF1 as a modifier of p53 function and cancer susceptibility
  47. Steroid Screening Tools Differentiating Nonclassical Congenital Adrenal Hyperplasia and Polycystic Ovary Syndrome
  48. Long-term cardio-metabolic outcomes in patients with classical congenital adrenal hyperplasia: is the risk real?
  49. Impact of schooling in the HIV/AIDS prevalence among Brazilian transgender women
  50. <p>Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide</p>
  51. High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53
  52. The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort
  53. Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules
  54. Sterol O-Acyl Transferase 1 as a Prognostic Marker of Adrenocortical Carcinoma
  55. Real-world impact of glucocorticoid replacement therapy on bone mineral density: retrospective experience of a large single-center CAH cohort spanning 24 years
  56. DIFERENÇAS NO DESENVOLVIMENTO SEXUAL: UM ESTUDO DE DIVULGAÇÃO DA CIÊNCIA EM UM HOSPITAL
  57. A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation
  58. Adrenal Insufficiency and Glucocorticoid Use During the COVID-19 Pandemic
  59. SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo
  60. Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence
  61. Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort
  62. ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome
  63. Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in the MKRN3 Gene after Treatment with Gonadotropin-Releasing Hormone Analog
  64. Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency
  65. Letter to the Editor re ‘Variations of sex development: The first German interdisciplinary consensus paper’
  66. Low frequency of pathogenic allelic variants in the 46,XY differences of sex development (DSD)-related genes in small for gestational age children with hypospadias
  67. Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome
  68. New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
  69. Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life
  70. Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum
  71. Evaluation of SHOX defects in the era of next‐generation sequencing
  72. New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
  73. Impact of Long-Term Dexamethasone Therapy on the Metabolic Profile of Patients With 21-Hydroxylase Deficiency
  74. KCNJ5 Somatic Mutation Is a Predictor of Hypertension Remission After Adrenalectomy for Unilateral Primary Aldosteronism
  75. Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation
  76. Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma
  77. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
  78. Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization
  79. Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency
  80. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency
  81. IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children
  82. Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era
  83. Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein
  84. Classic congenital adrenal hyperplasia and its impact on reproduction
  85. Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
  86. Premature Pubarche due to Exogenous Testosterone Gel or Intense Diaper Rash Prevention Cream Use: A Case Series
  87. DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum
  88. Methylome profiling of healthy and central precocious puberty girls
  89. DLK1 Is a Novel Link Between Reproduction and Metabolism
  90. Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development
  91. A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1 ) pathogenic variant
  92. Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects
  93. Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development
  94. Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development
  95. An update of genetic basis of PCOS pathogenesis
  96. Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis
  97. Androgen insensitivity syndrome: a review
  98. Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels
  99. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
  100. Applicability of a novel mathematical model for the prediction of adult height and age at menarche in girls with idiopathic central precocious puberty
  101. Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region
  102. Low estrogen doses normalize testosterone and estradiol levels to the female range in transgender women
  103. Primary malignant tumors of the adrenal glands
  104. The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH)
  105. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing
  106. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
  107. Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
  108. Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling
  109. A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure
  110. Adjuvant radiotherapy for the primary treatment of adrenocortical carcinoma: are we offering the best?
  111. Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies
  112. A severe phenotype of Kennedy disease associated with a very large cag repeat expansion
  113. Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
  114. A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome
  115. Long-Term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: Anthropometric, Metabolic, and Reproductive Aspects
  116. Discriminating between virilizing ovary tumors and ovary hyperthecosis in postmenopausal women: clinical data, hormonal profiles and image studies
  117. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
  118. Síndrome de persistencia del conducto de Müller debido a mutación en el gen del receptor de la hormona antimülleriana (AMHR2)
  119. Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty
  120. Non‐coding variation in disorders of sex development
  121. Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening
  122. Stress levels in precocious puberty
  123. 5-alpha reductase type 2 deficiency
  124. Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal
  125. 46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
  126. A Novel Homozygous Missense <b><i>FSHR</i></b> Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family
  127. An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles
  128. Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated<b><i> CYP17A1</i></b> Alleles of Brazilian Patients
  129. Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype
  130. Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child
  131. Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals
  132. Surgical Treatment after Failed Primary Correction of Urogenital Sinus in Female Patients with Virilizing Congenital Adrenal Hyperplasia: Are Good Results Possible?
  133. Steroid 5α-reductase 2 deficiency
  134. Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency
  135. A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)
  136. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction
  137. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma
  138. Negative correlation between tumour size and cortisol/ACTH ratios in patients with Cushing’s disease harbouring microadenomas or macroadenomas
  139. Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects
  140. Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line
  141. High Frequency of <b><i>MKRN3</i></b> Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic
  142. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma
  143. Differential Expression of Stem Cell Markers in Human Adamantinomatous Craniopharyngioma and Pituitary Adenoma
  144. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype
  145. The Use of Three-dimensional Printers for Partial Adrenalectomy: Estimating the Resection Limits
  146. The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene
  147. Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer
  148. A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency
  149. Long-term Results after CT-Guided Percutaneous Ethanol Ablation for the Treatment of Hyperfunctioning Adrenal Disorders
  150. Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure
  151. Malignant paraganglioma in children treated with embolization prior to surgical excision
  152. Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation
  153. Abstract 3464: Prognostic value of DICER1 expression in adrenocortical cancer patients
  154. Low DICER1 expression is associated with poor clinical outcome in adrenocortical carcinoma
  155. Role of GLI2 in hypopituitarism phenotype
  156. FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
  157. DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis
  158. Disorders of sex development: effect of molecular diagnostics
  159. High 18F-FDG uptake in PMAH correlated with normal expression of Glut1, HK1, HK2, and HK3
  160. The clinical, structural, and biological features of neovaginas: a comparison of the Frank and the McIndoe techniques
  161. Genetics of primary macronodular adrenal hyperplasia
  162. Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
  163. Gender assignment in patients with disorder of sex development
  164. Expression of LIN28 and its regulatory microRNAs in adult adrenocortical cancer
  165. Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center
  166. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort
  167. Validation of an immunoassay for anti-Müllerian hormone measurements and reference intervals in healthy Brazilian subjects
  168. Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay
  169. Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre
  170. Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism
  171. Quality of life of patients with 46,XX and 46,XY disorders of sex development
  172. ARMC5Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia
  173. Diagnosis of prolactinoma in two male-to-female transsexual subjects following high-dose cross-sex hormone therapy
  174. Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3
  175. Increased expression of ACTH (MC2R) and androgen (AR) receptors in giant bilateral myelolipomas from patients with congenital adrenal hyperplasia
  176. Long-Term Followup of a Large Cohort of Patients with Ovotesticular Disorder of Sex Development
  177. Análise de um radioimunoensaio iodado para determinação de 11-deoxicortisol
  178. Clinical management of transsexual subjects
  179. Avanços na etiologia, no diagnóstico e no tratamento da puberdade precoce central
  180. Association of glucocorticoid receptor polymorphisms with clinical and metabolic profiles in polycystic ovary syndrome
  181. Amplification of theInsulin-Like Growth Factor 1 ReceptorGene Is a Rare Event in Adrenocortical Adenocarcinomas: Searching for Potential Mechanisms of Overexpression
  182. Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia
  183. Homozygous Inactivating Mutation inNANOS3in Two Sisters with Primary Ovarian Insufficiency
  184. Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome
  185. Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
  186. Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age
  187. PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation
  188. Modulatory effect of BclI GR gene polymorphisms on the obesity phenotype in Brazilian patients with Cushing's disease
  189. Relatively high frequency of non‐synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly
  190. Analysis of the insulin‐like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp)
  191. Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding
  192. CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
  193. Obesity and Familial Predisposition Are Significant Determining Factors of an Adverse Metabolic Profile in Young Patients with Congenital Adrenal Hyperplasia
  194. The benign spectrum of hypothalamic hamartomas: Infrequent epilepsy and normal cognition in patients presenting with central precocious puberty
  195. Molecular and Gene Network Analysis of Thyroid Transcription Factor 1 <b><i>(TTF1)</i></b> and Enhanced at Puberty <b><i>(EAP1)</i></b> Genes in Patients with GnRH-Dependent Pubertal Disorders
  196. The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for <b><i>SHOX</i></b> Analysis
  197. Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  198. Unrecognized Diabetes and Myocardial Necrosis: Predictors of Hyperglycemia in Myocardial Infarction
  199. Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders
  200. Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis
  201. Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome
  202. Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism
  203. Disorders of Sex Development
  204. DSD Due to 5α-Reductase 2 Deficiency - from Diagnosis to Long Term Outcome
  205. Advice on the Management of Ambiguous Genitalia to a Young Endocrinologist from Experienced Clinicians
  206. The effect of fetal androgen metabolism‐related gene variants on external genitalia virilization in congenital adrenal hyperplasia
  207. Impact of Glucocorticoid Receptor Gene Polymorphisms on the Metabolic Profile of Adult Patients with the Classical Form of 21-Hydroxylase Deficiency
  208. Growth standards of patients with Noonan and Noonan‐like syndromes with mutations in the RAS/MAPK pathway
  209. Laparoscopic adrenalectomy in children
  210. Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism
  211. Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia
  212. The Interactive Effect ofGHR-Exon 3and −202 A/C IGFBP3Polymorphisms on rhGH Responsiveness and Treatment Outcomes in Patients with Turner Syndrome
  213. Genotype analysis of the human endostatin variant p.D104N in benign and malignant adrenocortical tumors
  214. The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors
  215. GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects
  216. Absence of Functional <b><i>LIN28B</i></b> Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty
  217. Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients
  218. Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11
  219. Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia
  220. 18F-FDG-PET/CT Imaging of ACTH-Independent Macronodular Adrenocortical Hyperplasia (AIMAH) Demonstrating Increased18F-FDG Uptake
  221. Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency
  222. A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome
  223. Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty
  224. Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism
  225. Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and −202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency
  226. Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor
  227. Frequency of genetic polymorphisms of PXR gene in the Brazilian population
  228. Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  229. 46,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity Syndrome
  230. 46,XY DSD due to 17β-HSD3 Deficiency and 5α-Reductase Type 2 Deficiency
  231. MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female
  232. A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels
  233. Novel Heterozygous NonsenseGLI2Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly
  234. Male hypogonadism: childhood diagnosis and future therapies
  235. Influence of the Fibroblast Growth Factor Receptor 4 Expression and the G388R Functional Polymorphism on Cushing’s Disease Outcome
  236. Congenital Hyperinsulinism in Brazilian Neonates: A Study of Histology, KATP Channel Genes, and Proliferation of β Cells
  237. Long-Term Surgical Outcome of Masculinizing Genitoplasty in Large Cohort of Patients With Disorders of Sex Development
  238. Usefulness of MLPA in the detection of SHOX deletions
  239. The Role of <i>SRY</i> Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants
  240. Nonsense Mutations inFGF8Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency
  241. Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes
  242. A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism
  243. TAC3/TACR3Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
  244. Mutations of theKISS1Gene in Disorders of Puberty
  245. 46,XY DSD due to impaired androgen production
  246. Steroidogenic Factor 1 Overexpression and Gene Amplification Are More Frequent in Adrenocortical Tumors from Children than from Adults
  247. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation‐dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1
  248. Could the Leukocyte X Chromosome Inactivation Pattern Be Extrapolated to Hair Bulbs?
  249. Isolated familial somatotropinoma: 11Q13-LOH and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis
  250. Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due toSHOXDeficiency
  251. Molecular analysis of CYP21A2 can optimize the follow‐up of positive results in newborn screening for congenital adrenal hyperplasia
  252. Novel Mutations inCYP11B1Gene Leading to 11β-Hydroxylase Deficiency in Brazilian Patients
  253. Possible role of a radiation-induced p53 mutation in a Nelson’s syndrome patient with a fatal outcome
  254. Desenvolvimento de próstata em meninas com hiperplasia adrenal congênita: efeito dos andrógenos intraútero ou inadequado controle hormonal pós-natal?
  255. Analysis of glucose-dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) expression in human adrenocortical hyperplasia
  256. Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant
  257. The −202 A Allele of Insulin-Like Growth Factor Binding Protein-3 (IGFBP3) Promoter Polymorphism Is Associated with Higher IGFBP-3 Serum Levels and Better Growth Response to Growth Hormone Treatment in Patients with Severe Growth Hormone Deficiency
  258. 46,XY disorders of sex development (DSD)
  259. Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway
  260. Analysis of Craniofacial and Extremity Growth in Patients with Growth Hormone Deficiency during Growth Hormone Therapy
  261. Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
  262. Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)
  263. Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling
  264. Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage
  265. Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X
  266. Expression profiles of the glucose-dependent insulinotropic peptide receptor and LHCGR in sporadic adrenocortical tumors
  267. Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome
  268. Expression of Insulin-Like Growth Factor-II and Its Receptor in Pediatric and Adult Adrenocortical Tumors
  269. Effects of long-term storage of filter paper blood samples on neonatal thyroid stimulating hormone, thyroxin and 17-alpha-hydroxyprogesterone measurements
  270. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients
  271. Y-chromosomal STR haplotypes in a sample from São Paulo (Brazil)
  272. The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency
  273. Factors Determining Normal Adult Height in Girls with Gonadotropin-Dependent Precocious Puberty Treated with Depot Gonadotropin-Releasing Hormone Analogs
  274. Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento
  275. Síndrome de Noonan: do fenótipo à terapêutica com hormônio de crescimento
  276. Modelos matemáticos para previsão de resposta ao tratamento com hormônio de crescimento
  277. Long‐term treatment of familial male‐limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole
  278. Role for postoperative cortisol response to desmopressin in predicting the risk for recurrent Cushing's disease
  279. Erratas
  280. A GPR54 -Activating Mutation in a Patient with Central Precocious Puberty
  281. Update on the etiology, diagnosis and therapeutic management of sexual precocity
  282. Population and mutation analysis of Y-STR loci in a sample from the city of São Paulo (Brazil)
  283. High Prevalence of Pituitary Magnetic Resonance Abnormalities and Gene Mutations in a Cohort of Brazilian Children with Growth Hormone Deficiency and Response to Treatment
  284. Polymorphisms Identified in the Upstream Core Polyadenylation Signal ofIGF1Gene Exon 6 Do Not Cause Pre- and Postnatal Growth Impairment
  285. Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency
  286. Ectopic ACTH syndrome caused by pheochromocytoma: Computed tomography-guided percutaneous ethanol injection as an alternative treatment
  287. Tratamento da deficiência do hormônio de crescimento (GH) em crianças: comparação entre o uso de canetas versus frascos/seringas para a aplicação do GH
  288. The degree of external genitalia virilization in girls with 21‐hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene
  289. Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene
  290. Exon 3‐deleted genotype of growth hormone receptor (GHRd3) positively influences IGF‐1 increase at generation test in children with idiopathic short stature
  291. Y‐STRs in Forensic Medicine: DNA Analysis in Semen Samples of Azoospermic Individuals
  292. Variabilidade do fenótipo de pacientes com síndrome de Noonan com e sem mutações no gene PTPN11
  293. Molecular analysis of the neuropeptide Y1 receptor gene in human idiopathic gonadotropin-dependent precocious puberty and isolated hypogonadotropic hypogonadism
  294. Síndrome de Nelson: relato de caso
  295. Classical osteoblastoma, atypical osteoblastoma, and osteosarcoma: a comparative study based on clinical, histological, and biological parameters
  296. Hirsutismo: diagnóstico diferencial
  297. The role of desmopressin in bilateral and simultaneous inferior petrosal sinus sampling for differential diagnosis of ACTH‐dependent Cushing's syndrome
  298. Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe
  299. Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene
  300. Ectopic ACTH syndrome: our experience with 25 cases
  301. SHOX mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability
  302. Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia
  303. An Inhibin B and Estrogen-Secreting Adrenocortical Carcinoma Leading to Selective FSH Suppression
  304. Effectiveness of treating ovarian hyperstimulation syndrome with cabergoline in two patients with gonadotropin-producing pituitary adenomas
  305. Reproductive Outcome of Women with 21-Hydroxylase-Deficient Nonclassic Adrenal Hyperplasia
  306. Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion
  307. A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin‐independent precocious puberty
  308. Some aspects of the behavior of the hypothalamus–pituitary–adrenal axis in patients with uncomplicated Plasmodium falciparum malaria: Cortisol and dehydroepiandrosterone levels
  309. Anatomical and functional outcomes of feminizing genitoplasty for ambiguous genitalia in patients with virilizing congenital adrenal hyperplasia
  310. Allelic Variants of the γ-Aminobutyric Acid-A Receptor α1-Subunit Gene (GABRA1) Are Not Associated with Idiopathic Gonadotropin-Dependent Precocious Puberty in Girls with and without Electroencephalographic Abnormalities
  311. Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of WNT‐4, RAR‐gamma, and RXR‐alpha as major genes determining MRKH anomaly in a study of 25 affected women
  312. Growth Hormone (GH) Pharmacogenetics: Influence of GH Receptor Exon 3 Retention or Deletion on First-Year Growth Response and Final Height in Patients with Severe GH Deficiency
  313. Zinc does not inhibit prolactin secretion during insulin-induced hypoglycemia in normal men
  314. Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism
  315. Padronização da técnica de extração de DNA de células de mucosa oral com NaCl: aplicação no estudo do gene PROP1
  316. High Degree of Discordance Between Three-Dimensional and Two-Dimensional Lumbar Spine Bone Mineral Density in Turner's Syndrome
  317. Avanços recentes no conhecimento dos mecanismos moleculares envolvidos na tumorigênese adrenocortical
  318. PTPN11(Protein Tyrosine Phosphatase, Nonreceptor Type 11) Mutations and Response to Growth Hormone Therapy in Children with Noonan Syndrome
  319. Letter re: FSH Receptor Polymorphisms and Iatrogenic Ovarian Hyperstimulation
  320. Efeito fundador da mutação E180splice no gene do receptor de hormônio de crescimento identificada em pacientes brasileiros com insensibilidade ao GH
  321. Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome
  322. Deletion Mapping of Chromosome 17 in Benign and Malignant Adrenocortical Tumors Associated with the Arg337His Mutation of the p53 Tumor Suppressor Protein
  323. Lack of inhibitory effect of zinc on prolactin secretion induced by cimetidine
  324. The laparoscopic management of intersex patients: the preferred approach
  325. Refining Hormonal Diagnosis of Type II 3β-Hydroxysteroid Dehydrogenase Deficiency in Patients with Premature Pubarche and Hirsutism Based on HSD3B2 Genotyping
  326. Hipoplasia das células de Leydig
  327. Craniofacial features with growth hormone treatment
  328. Síndrome de insensibilidade aos andrógenos: análise clínica, hormonal e molecular de 33 casos
  329. Insensibilidade completa aos andrógenos em pacientes brasileiras causada pela mutação P766A no gene do receptor androgênico
  330. Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes
  331. Substitutions in the CYP21A2 promoter explain the simple‐virilizing form of 21‐hydroxylase deficiency in patients harbouring a P30L mutation
  332. Adrenal, supra-renal
  333. Tumores adrenocorticais: novas perspectivas
  334. Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors
  335. Estudo multicêntrico de pacientes brasileiros com deficiência da 21-hidroxilase: correlação do genótipo com o fenótipo
  336. A Single Luteinizing Hormone Determination 2 Hours after Depot Leuprolide Is Useful for Therapy Monitoring of Gonadotropin-Dependent Precocious Puberty in Girls
  337. Absence of follicle stimulation hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome (iOHSS)
  338. Complexo de Carney: relato de um caso e revisão da literatura
  339. Assessment of the role of transcript for GATA-4 as a marker of unfavorable outcome in human adrenocortical neoplasms
  340. Surgery for adrenal tumours with thrombus in the supra‐diaphragmatic infra‐atrial inferior vena cava, with no cardiopulmonary bypass
  341. A meiotic recombination in a new isolated familial somatotropinoma kindred
  342. Inhibin  -subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers
  343. Pituitary Apoplexy During Therapy with Cabergoline in an Adolescent Male with Prolactin-Secreting Macroadenoma
  344. A Microdeletion in the Ligand Binding Domain of Human Steroidogenic Factor 1 Causes XY Sex Reversal without Adrenal Insufficiency
  345. Erratum
  346. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
  347. Use of nonradioactive labeling to detect large gene rearrangements in 21-hydroxylase deficiency
  348. Clinical and molecular analysis of human reproductive disorders in Brazilian patients
  349. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients
  350. The first homozygous mutation (S226I) in the highly‐conserved WSXWS‐like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration
  351. P450c17 Deficiency in Brazilian Patients: Biochemical Diagnosis through Progesterone Levels Confirmed byCYP17Genotyping
  352. Acromegalic features in growth hormore (GH)‐deficient patients after long‐term GH therapy
  353. A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction
  354. Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male‐limited precocious puberty
  355. Genética molecular do eixo hipotálamo-hipófise-gonadal
  356. Familial Hyperestrogenism in Both Sexes: Clinical, Hormonal, and Molecular Studies of Two Siblings
  357. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
  358. Cushing’s Syndrome Secondary to Adrenocorticotropin-Independent Macronodular Adrenocortical Hyperplasia due to Activating Mutations ofGNAS1Gene
  359. Male Pseudohermaphroditism Due to 5α-Reductase 2 Deficiency: Outcome of a Brazilian Cohort
  360. Pituitary Magnetic Resonance Imaging in Idiopathic and Genetic Growth Hormone Deficiency
  361. Authors’ Response: Pituitary Magnetic Resonance Imaging in Idiopathic and Genetic Growth Hormone Deficiency
  362. High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil
  363. GH Values after Clonidine Stimulation Measured by Immunofluorometric Assay in Normal Prepubertal Children and GH-Deficient Patients
  364. Pituitary Magnetic Resonance Imaging and Function in Patients with Growth Hormone Deficiency with and without Mutations inGHRH-R,GH-1, orPROP-1Genes
  365. Glucocorticoid receptor gene polymorphisms in ACTH-secreting pituitary tumours
  366. Reply to correspondence from Hall—“Detection of Y‐specific sequences in patients with Turner syndrome”
  367. Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect
  368. Nishi MY, Domenice S, Medeiros MA, Mendonca BB, Billerbeck AEC. 2002. Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method. Am J Med Genet 107:299–305.
  369. Detection of Y‐specific sequences in patients with Turner syndrome
  370. Aspectos Moleculares da Determinação e Diferenciação Sexual
  371. Bases Genéticas dos Distúrbios de Crescimento
  372. Population Genetics of Nine Short Tandem Repeat Loci
  373. An Unusual Phenotype of Frasier Syndrome due to IVS9 +4C>T Mutation in the WT1 Gene: Predominantly Male Ambiguous Genitalia and Absence of Gonadal Dysgenesis
  374. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
  375. NON-RADIOMETRIC IMMUNOASSAYS [FLUOROIMMUNOASSAY (FIA) AND FLUOROMETRIC ENZYME IMMUNOASSAY (FEIA)] WITH RADIOIMMUNOASSAY (RIA) FOR EVALUATION OF ADRENAL FUNCTION IN NORMAL AND HYPERCORTISOLEMIC DOGS
  376. Comparison of the sensitivity of a 24 h-shell vial assay, and conventional tube culture, in the isolation of Herpes simplex virus – 1 from corneal scrapings
  377. Menstrual disturbances in patients with systemic lupus erythematosus without alkylating therapy: clinical, hormonal and therapeutic associations
  378. Nongenetic Male Pseudohermaphroditism
  379. Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene
  380. Variable ACTH-Stimulated 17-Hydroxyprogesterone Values in 21-Hydroxylase Deficiency Carriers Are Not Related to the Different CYP21 Gene Mutations
  381. Detection of Y‐specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method
  382. Severe and Mild Neonatal Hypothyroidism Mediate Opposite Effects on Leydig Cells of Rats
  383. Zinc supplementation does not inhibit basal and metoclopramide-stimulated prolactinemia secretion in healthy men
  384. Adrenocortical tumors: results of treatment and study of Weiss's score as a prognostic factor
  385. Nongenetic Male Pseudohermaphroditism and Reduced Prenatal Growth
  386. Normal bone density in male pseudohermaphroditism due to 5alpha- reductase 2 deficiency
  387. An Inherited Mutation Outside the Highly Conserved DNA-Binding Domain of the p53 Tumor Suppressor Protein in Children and Adults with Sporadic Adrenocortical Tumors
  388. Adrenocorticotropin-Dependent Precocious Puberty of Testicular Origin in a Boy with X-Linked Adrenal Hypoplasia Congenita Due to a Novel Mutation in theDAX1Gene
  389. Absence of Mutations Involving the Lim Homeobox Domain GeneLHX9in 46,XY Gonadal Agenesis and Dysgenesis
  390. Two Novel Mutations in the Gonadotropin-Releasing Hormone Receptor Gene in Brazilian Patients with Hypogonadotropic Hypogonadism and Normal Olfaction
  391. Premature thelarche in girls after growth hormone therapy
  392. Laparoscopic management of intersexual states
  393. A mini-exon multiplex polymerase chain reaction to distinguish the major groups of Trypanosoma cruzi and T. rangeli in the Brazilian Amazon
  394. Adrenal Nodules in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Regression after Adequate Hormonal Control
  395. 21-Hydroxylase–deficient nonclassic adrenal hyperplasia is a progressive disorder: A multicenter study
  396. Gonadotropin-Independent Precocious Puberty Due to Luteinizing Hormone Receptor Mutations in Brazilian Boys: A Novel Constitutively Activating Mutation in the First Transmembrane Helix
  397. The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary–gonadal axis in both sexes
  398. No evidence of somatic activating mutations on gonadotropin receptor genes in sex cord stromal tumors
  399. 21-Hydroxylase deficiency in Brazil
  400. Male Pseudohermaphroditism due to 17β-Hydroxysteroid Dehydrogenase 3 Deficiency: Diagnosis, Psychological Evaluation, and Management
  401. Genotyping of the type II 3β-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated δ5-steroids
  402. Combined Pituitary Hormone Deficiency Caused by a Novel Mutation of a Highly Conserved Residue (F88S) in the Homeodomain of PROP-1
  403. Influence of different genotypes on 17‐hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21‐hydroxylase deficiency
  404. Lack of reduction in body fat after treatment with insulin-like growth factor-I in two children with growth hormone gene deletions
  405. Origin of an Ovarian Steroid Cell Tumor Causing Isosexual Pseudoprecocious Puberty Demonstrated by the Expression of Adrenal Steroidogenic Enzymes and Adrenocorticotropin Receptor
  406. Mutation analysis of the follicle-stimulating hormone receptor gene in girls with gonadotropin-independent precocious puberty resulting from autonomous cystic ovaries
  407. Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II
  408. Clinical features of women with resistance to luteinizing hormone
  409. 17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient andde NovoMutations1
  410. 17 -Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations
  411. A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome
  412. Diagnostic Value of Fluorometric Assays in the Evaluation of Precocious Puberty
  413. A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency
  414. Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene
  415. A Novel Mutation in the Fourt Transmembrane Helix of the Luteinizing Hormone Receptor Causing Sporadic Gonadotropin-Independent Precocious Puberty
  416. Analysis of Exon 5 Of the Androgen Receptor (AR) Gene in Patients with Male Pseudohermaphroditism (MPH) Due to Androgen Insensitivity or Undetermined Cause
  417. Clinical Expression of a Familial Case of Aromatase Excess Syndrome in Both Sexes
  418. Longitudinal Hormonal and Pituitary Imaging Changes in Two Females with Combined Pituitary Hormone Deficiency due to Deletion of A301,G302 in the PROP1 Gene
  419. Mutations in the Type II 3β-Hydroxysteroide Dehydrogenase Gene (3β-HSD) in Girls with Premature Pubarche
  420. No Evidence of Germline Activating Mutations in the Follicle-Stimulating Hormone Receptor (FSHR) Gene in Girls with Gonadotropin-Independent Precocious Puberty
  421. Screening for Growth Hormone (GH) Gene Deletions in Brazilian Patients with Isolated GH Deficiency
  422. Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot
  423. 17 -Hydroxysteroid Dehydrogenase 3 Deficiency in Women
  424. Effect of Acute and Chronic Oral Zinc Administration in Hyperprolactinemic Patients
  425. Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
  426. Insulin-like Growth Factor-I Treatment in Two Children with Growth Hormone Gene Deletions
  427. Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency
  428. Effects of acute and chronic zinc administration on growth velocity in patients with hypopituitarism
  429. A study of patients with Nelson's syndrome
  430. No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure
  431. Circumscribed lesion of the medial forebrain bundle area causes structural impairment of lymphoid organs and severe depression of immune function in rats
  432. The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency
  433. A Unique Constitutively Activating Mutation in Third Transmembrane Helix of Luteinizing Hormone Receptor Causes Sporadic Male Gonadotropin-Independent Precocious Puberty
  434. Activating Mutation of the Stimulatory G Protein (gsp) as a Putative Cause of Ovarian and Testicular Human Stromal Leydig Cell Tumors
  435. Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions
  436. A Homozygous Microdeletion in Helix 7 of the Luteinizing Hormone Receptor Associated with Familial Testicular and Ovarian Resistance Is Due to Both Decreased Cell Surface Expression and Impaired Effector Activation by the Cell Surface Receptor
  437. A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives
  438. A novel homozygous nonsense mutation E135* in the type II 3β‐hydroxysteroid dehydrogenase gene in a girl with salt‐losing congenital adrenal hyperplasia
  439. Serum Inhibin Levels Before and After Gonadotropin Stimulation in Cryptorchid Boys Under Age 4 Years
  440. Apparent mineralocorticoid excess in a Brazilian kindred
  441. A virilizing Leydig cell tumor of the ovary associated with stromal hyperplasia under gonadotropin control
  442. A Novel Nonsense Mutation in the First Zinc Finger of the Vitamin D Receptor Causing Hereditary 1,25-Dihydroxyvitamin D3-Resistant Rickets
  443. The genetic and functional basis of isolated 17,20–lyase deficiency
  444. Growth Hormone Receptor Messenger Ribonucleic Acid in Normal and Pathologic Human Adrenocortical Tissues--An Analysis by Quantitative Polymerase Chain Reaction Technique
  445. Pheochromocytoma: Study of 50 Cases
  446. Ovarian resistance to luteinizing hormone: A novel cause of amenorrhea and infertility
  447. Management of ambiguous genitalia in pseudohermaphrodites: New perspectives on vaginal dilation
  448. NORMAL hGH VALUES AFTER CLONIDINE STIMULATION MEASURED BY AN IMMUNOFLUOROMETRIC METHOD
  449. Frequency of Deletions and Gene Conversions in Brazilian Patients With Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
  450. Growth Potential in Congenital Adrenal Hyperplasia(Cah) Due To 21-Hydroxylase Deficiency Treated With Cortisone Acetate(Ca) and Fludrohidrocortisone(Fh)
  451. Pcr and Dgge Analysis of Sry Gene in Patients With Gonadal Differentiation Disorders
  452. Treatment With Recombinant Igf-I for Patients With Growth Hormone (Gh) Gene Deletions
  453. Long-Acting Gonadotropin-Releasing Hormone Agonists in the Differential Diagnosis of Male Precocious Puberty
  454. Use of Desmopressin in Bilateral and Simultaneous Inferior Petrosal Sinus Sampling for Differential Diagnosis of ACTH-Dependent Cushingʼs Syndrome
  455. Cortisol and adrenocorticotropin response to desmopressin in women with Cushing's disease compared with depressive illness
  456. Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.
  457. Male Pseudohermaphroditism Due to Steroid 5α-Reductase 2 Deficiency Diagnosis, Psychological Evaluation, and Management
  458. Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene
  459. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency
  460. Clinical, Hormonal and Pathological Findings in a Comparative Study of Adrenocortical Neoplasms in Childhood and Adulthood
  461. Women with steroid 5 alpha-reductase 2 deficiency have normal concentrations of plasma 5 alpha-dihydroprogesterone during the luteal phase.
  462. Women with steroid 5 alpha-reductase 2 deficiency have normal concentrations of plasma 5 alpha-dihydroprogesterone during the luteal phase
  463. Corrigenda
  464. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.
  465. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty
  466. Endocrine interaction between zinc and prolactin
  467. Ectopic ACTH syndrome
  468. The effects of spironolactone on testosterone fractions and sex-hormone binding globulin binding capacity in hirsute women
  469. The essential role of zinc in growth
  470. No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasms.
  471. No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasms
  472. Failure of partial hypophysectomy as definitive treatment in cushing’s disease owing to nodular corticotrope hyperpiasia; report of four cases
  473. Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain
  474. Selection of adrenal tumor cells in culture demonstrated by interphase cytogenetics
  475. Ectopic Adrenocorticotropic Hormone Syndrome
  476. Ectopic adrenocorticotropic hormone syndrome [published erratum appears in Endocr Rev 1995 Aug;16(4):507]
  477. 3 ADRENAL IMAGE STUDIES IN PATIENTS WITH CONGENITAL ADRENAL HYPERLASIA DUE TO 21-HYDROXYLASE DEFICIENCY
  478. 34 BONE DENISTOMETRY IN PATIENTS WITH HYPERGONADOTROPIC HYPOGONADISM UNDER HORMONIAL REPLACEMENT THERAPY
  479. 35 BONE AGE(BA) AT THE END OF TREATMENT IN CENTRAL PRECOCIOUS PUBERTY (CPP): IMPACT OVER STATURE
  480. 27 COMPARISON OF IMMUNOFLUORIMETRIC (FIA) AND RADIOIMUNOASSAY (RIA) METHODS FOR HE HEASUREMENT OF BASAL AND GnRH STIMULATED LEVELS OF GONADOTROPINS IN NORMAL CHILDREN
  481. 33 EFFECT OF CHRONIC ZINC ADMINISTRATION ON THE GROWTH OF PREPUBERTAL BOYS WITH SHORT STATURE
  482. 25 EPIDEMIOLOGIC FEATURES OF 31 PATIENTS WITH ADRENAL CORTICAL TUMOURS
  483. 17 ETIOLOGIC DIAGNOSIS OF TRUE PRECOCIOUS PUBERTY (TPP) BY COMPUTED TOMOGRAPHY (CT) AND MAGNETIC RESONANCE (MR)
  484. 10 GnRH AGONIST THERAPY IN TRUE PRECOCIUS PUBERTY SECONDARY TO HYPOTHALAMIC HAMARTOMA (IHH)
  485. 33 HIPOTHALAHO-PITUITARY AXIS (HPA) BY MAGNETIC RESONANCE IMAGING (RI) IN GROWTH HORMONE DEFICIENCY
  486. 13 INHIBIN GENERATION IN CRYPTORCHID (CRI) BOYS UNDER 4 YEARS OF LIFE
  487. 8 LONG-ACTING GnRH ANALOG (GnRHa) IN THE DIFFERENTIAL DIAGNOSIS OF MALE SEXUAL PRECOCITY
  488. 28 MOLECULAR ANALYSES OF STYEROID 5αREDUCTASE 2 GENE IN MALE PSEIDOHERMAPHRODITES
  489. Calcium-dependent protein kinase-C activity in human adrenocortical neoplasms, hyperplastic adrenals, and normal adrenocortical tissue.
  490. Calcium-dependent protein kinase-C activity in human adrenocortical neoplasms, hyperplastic adrenals, and normal adrenocortical tissue
  491. Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene
  492. Male pseudohermaphroditism caused by mutations of testicular 17β–hydroxysteroid dehydrogenase 3
  493. Natural Mutagenesis Study of the Human Steroid 5.alpha.-Reductase 2 Isoenzyme
  494. Mutation in 3ß-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females
  495. The desmopressin stimulation test in the differential diagnosis of Cushing's syndrome
  496. Adrenal Autografts Following Bilateral Adrenalectomy
  497. Pulsatile Secretion of Serum Gonadotropins in Hirsute Women with and without Polycystic Ovarian Syndrome
  498. Long-Term Treatment of Central Precocious Puberty with a Long-Acting Analogue of Luteinizing Hormone Release Hormone (D-Tryp6-GnRH) in Monthly Injections
  499. Molecular genetics of steroid 5 alpha-reductase 2 deficiency.
  500. Macrossomia, macrocrania e incoordenação motora da infância síndrome de sotos (Mckusick 11755) estudo de 7 casos e revisão de aspectos clínicos de 198 casos publicados
  501. Identification of nonclassical 21-hydroxylase deficiency in girls with precocious pubarche
  502. GAPO syndrome (McKusick 23074)—A connective tissue disorder: Report on two affected sibs and on the pathologic findings in the older
  503. 24 HOUR GROWTH HORMONE SECRETION IN GIRLS WITH SEXUAL PRECOCITY
  504. 24 HOUR LH AND FSH SECRETION AND RESPONSE TO GNRH IN GIRLS WITH SEXUAL PRECOCITY
  505. ANALYSIS OF CLINICAL DATA OF 107 PATIENTS WITH GROWTH HORMONE DEFICIENCY
  506. COMPARISON OF ADRENAL TUMORS IN CHILDREN AND ADULTS
  507. CRYPTORCHISM IN BOYS UNDER 4 YEARS: TREATMENT WITH hCG + hMG
  508. SEXUAL PRECOCITY OF TESTICULAR ORIGIN IN TWINS: EVOLUTION OF A LEYDIG CELL TUMOR
  509. XX TRUE HERMAPHRODITISM ASSOCIATED TO MULTIPLE MALFORMATION. ABSENCE OF Y-SPECIFIC DNA SEQUENCES AND NORMAL H-Y ANTIGEN EXPRESSION
  510. Zinc acutely and temporarily inhibits adrenal cortisol secretion in humans
  511. Zinc: An Inhibitor of Prolactin (PRL) Secretion in Humans
  512. Cushing's Syndrome Due to Ectopic ACTH Secretion by Bilateral Pheochromocytomas in Multiple Endocrine Neoplasia Type 2A
  513. Normal Expression of the Serologically Defined H-Y Antigen in Leydig Cell Hypoplasia
  514. Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association
  515. Somatomedin Levels in the Diagnosis and Therapy of Growth Hormone Deficiency
  516. Criteria for the cure of acromegaly: comparison between basal growth hormone and somatomedin C plasma concentrations in active and non-active acromegalic patients
  517. Male pseudohermaphroditism due to nonsalt-losing 3β-hydroxysteroid dehydrogenase deficiency: Gender role change and absence of gynecomastia at puberty
  518. Low-dose oral clonidine: Effective growth hormone releasing agent in children but not in adolescents
  519. A clinico‐genetic investigation of Leydig cell hypoplasia
  520. Spironolactone-reversible rickets associated with 11β-hydroxysteroid dehydrogenase deficiency syndrome
  521. Male pseudohermaphroditism resulting from Leydig cell hypoplasia
  522. X-chromatin in congenital virilizing adrenal hyperplasia