All Stories

  1. Emerging medical therapies for congenital adrenal hyperplasia
  2. Response to Letter to the Editor: “Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline”
  3. Demographics & Anthropometrics Impact Benefits of Health Intervention: Data from the ROAD Project
  4. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline
  5. Iatrogenic Cushing syndrome in a child with congenital adrenal hyperplasia: Erroneous compounding of hydrocortisone.
  6. Androgenic Disorders and Abnormal Pubertal Development
  7. Premature Ovarian Failure
  8. Fetal Medical Therapy
  9. Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR)
  10. Congenital Adrenal Hyperplasia
  11. A Rationale for Mineralocorticoid Supplementation in Classic Congenital Adrenal Hyperplasia
  12. Pediatric endocrinologists' practices in screening for celiac disease in patients with type 1 diabetes
  13. Alanine transferase: An independent indicator of adiposity related comorbidity risk in youth
  14. Faculty of 1000 evaluation for Relationship Between Final Height and Health Outcomes in Adults With Congenital Adrenal Hyperplasia: United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE).
  15. Debates and Controversies in Genetic Steroid Disorders
  16. Adrenal Incidentalomas
  17. Racial/Ethnic differences in clinical and biochemical type 2 diabetes mellitus risk factors in children
  18. Effects of parental origins and length of residency on adiposity measures and nutrition in urban middle school students: a cross-sectional study
  19. Testicular Adrenal Rests/Congenital Adrenal Hyperplasia
  20. Congenital Adrenal Hyperplasia: Neuroendocrine, Behavioral and Cognitive Implications
  21. Vitamin D, osteocalcin, and risk for adiposity as comorbidities in middle school children
  22. Treatment Outcomes in Congenital Adrenal Hyperplasia
  23. Congenital Adrenal Hyperplasia
  24. JCEM ARCHIVECongenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
  25. Congenital adrenal hyperplasia: an update in children
  26. The Reduce Obesity and Diabetes (ROAD) Project: Design and Methodological Considerations
  27. Faculty of 1000 evaluation for A SEQUENCE VARIATION IN 3'UTR OF CYP21A2 GENE CORRELATES WITH A MILD FORM OF CONGENITAL ADRENAL HYPERPLASIA.
  28. Medical Treatment of Classic and Nonclassic Congenital Adrenal Hyperplasia
  29. Retinol binding protein 4 is associated with adiposity-related co-morbidity risk factors in children
  30. Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia
  31. The Hormone Foundation’s Patient Guide to Congenital Adrenal Hyperplasia
  32. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
  33. Congenital Adrenal Hyperplasia
  34. Hiperplasia suprarrenal congénita
  35. Growth and development: Congenital adrenal hyperplasia—glucocorticoids and height
  36. A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency
  37. Novel P450c17 Mutation H373D Causing Combined 17α-Hydroxylase/17,20-Lyase Deficiency
  38. Managing Childhood Overweight: Behavior, Family, Pharmacology, and Bariatric Surgery Interventions
  39. Prevention and Treatment of Pediatric Obesity: An Endocrine Society Clinical Practice Guideline Based on Expert Opinion
  40. Mutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum
  41. Nonclassic adrenal hyperplasia
  42. Prenatal and Neonatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia
  43. Diagnosis and management of congenital adrenal hyperplasia
  44. Childhood Obesity
  45. The Genetics of Steroid 21-Hydroxylase Deficiency
  46. Improving Neonatal Screening for Congenital Adrenal Hyperplasia
  47. Update of guidelines for the use of growth hormone in children: the Lawson Wilkins pediatric endocrinology society drug and therapeutics committee
  48. Congenital Adrenal Hyperplasia
  49. Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency
  50. Authors’ Response: Regarding the Consensus Statement on 21-Hydroxylase Deficiency from the Lawson Wilkins Pediatric Endocrine Society and The European Society for Paediatric Endocrinology
  51. Congenital Adrenal Hyperplasia
  52. New therapies for congenital adrenal hyperplasia
  53. Adrenomedullary Function May Predict Phenotype and Genotype in Classic 21-Hydroxylase Deficiency
  54. Long-term consequences of childhood-onset congenital adrenal hyperplasia
  55. Continuous glucose monitoring in managing diabetes in children
  56. Congenital adrenal hyperplasia: Transition from childhood to adulthood
  57. PREFACE
  58. CONGENITAL ADRENAL HYPERPLASIA OWING TO 21-HYDROXYLASE DEFICIENCY
  59. Molecular Diagnosis of CYP21 Mutations in Congenital Adrenal Hyperplasia
  60. 21-Hydroxylase–deficient nonclassic adrenal hyperplasia is a progressive disorder: A multicenter study
  61. Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype
  62. A Multicenter Study of Women with Nonclassical Congenital Adrenal Hyperplasia: Relationship between Genotype and Phenotype
  63. Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency1
  64. Ovarian Hyperthecosis in the Setting of Portal Hypertension
  65. Regulation of HSD17B1 and SRD5A1 in Lymphocytes
  66. Toward better treatment of congenital adrenal hyperplasia*
  67. PRENATAL TREATMENT OF CONGENITAL ADRENAL HYPERPLASIA
  68. PRENATAL TREATMENT OF CONGENITAL ADRENAL HYPERPLASIA
  69. Genotyping CYP21 of Newborns for Congenital Adrenal Hyperplasia
  70. Genotyping of CYP21, Linked Chromosome 6p Markers, and a Sex-Specific Gene in Neonatal Screening for Congenital Adrenal Hyperplasia1
  71. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
  72. Study of a Kindred with Classic Congenital Adrenal Hyperplasia: Diagnostic Challenge due to Phenotypic Variance1
  73. Prominent sex steroid metabolism in human lymphocytes
  74. Effects of androgens on gene expression in muscle 428
  75. Steroid 21-hydroxylase expression and activity in human lymphocytes
  76. ELEVATED URIC ACID LEVELS IN BLOOD FOLLOWING GROWTH HORMONE THERAPY.† 511
  77. Detection of Steroid 21-Hydroxylase Alleles Using Gene-Specific PCR and a Multiplexed Ligation Detection Reaction
  78. Splicing mutation inCYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia
  79. Transient Central Precocious Puberty in Non-Classic 21-Hydroxylase Deficiency
  80. Failure of Steroid Replacement to Consistently Normalize Pituitary Function in Congenital Adrenal Hyperplasia: Hormonal and MRI Data
  81. The Genetics of 21-Hydroxylase Deficiency
  82. Mutations in Steroid 21-Hydroxylase (CYP21)
  83. Molecular Genetic Prenatal Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Allele-Specific Hybridization
  84. Investigation of the mechanism of hypertension in apparent mineralocorticoid excess
  85. INCREASED BONE MINERAL DENSITY IN CONGENITAL ADRENAL HYPERPLASIA (CAH)
  86. Congenital adrenal hyperplasia
  87. Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia)
  88. A Mutation (Pro-30 to Leu) inCYP21 Represents a Potential Nonclassic Steroid 21-Hydroxylase Deficiency Allele
  89. Aldosterone Synthesis in Salt-Wasting Congenital Adrenal Hyperplasia with Complete Absence of Adrenal 21-Hydroxylase
  90. Bilateral Adrenal Uptake of Gallium-67 Citrate in a Patient with Congenital Adrenal Hyperplasia
  91. First Trimester Prenatal Treatment and Molecular Genetic Diagnosis of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)
  92. Prevalence of Nonclassical Steroid 21-Hydroxylase Deficiency Based on a Morning Salivary 17-hydroxyprogesterone Screening Test: A Small Sample Study*
  93. First Trimester Prenatal Treatment and Molecular Genetic Diagnosis of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)*
  94. Structure of the Human RD Gene: A Highly Conserved Gene in the Class III Region of the Major Histocompatibility Complex
  95. Molecular Genetic Analysis of Nonclassic Steroid 21 -Hydroxylase Deficiency Associated with HLA-B14, DRI
  96. Molecular Genetic Analysis of Nonclassic Steroid 21-Hydroxylase Deficiency Associated with HLA-B14,DR1
  97. ATYPICAL 11β-HYDROXYLASE DEFICIENCY: ABSENCE OF RENIN SUPPRESSION AND HYPERTENSION DESPITE HIGH DOC
  98. ACQUISITION OF ALDOSTERONE BIOSYNTHETIC CAPACITY IN CONGENITAL ADRENAL HYPERPLASIA WITH HOMOZYGOUS DELETION OF THE GENE ENCODING P450/C21
  99. Genotype and Hormonal Phenotype in Nonclassical 21-Hydroxylase Deficiency*
  100. Genetics of Adrenal Steroid 21-Hydroxylase Deficiency*
  101. High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency
  102. Excess Mineralocorticoid Receptor Activity in Patients with Dexamethasone-Suppressible Hyperaldosteronism Is under Adrenocorticotropin Control*
  103. Genetics of steroid 21-hydroxylase deficiency
  104. Congenital Adrenal Hyperplasia
  105. Child with Rapid Growth and Precocious Sexual Maturation
  106. Faculty of 1000 evaluation for Newborn screening fact sheets.
  107. Faculty of 1000 evaluation for Reduced cortisol metabolism during critical illness.
  108. Faculty of 1000 evaluation for Congenital adrenal hyperplasia and the second newborn screen.
  109. Faculty of 1000 evaluation for Cortisol response to operative stress with anesthesia in healthy children.
  110. Faculty of 1000 evaluation for Central precocious puberty caused by mutations in the imprinted gene MKRN3.
  111. Faculty of 1000 evaluation for Nerve sparing ventral clitoroplasty preserves dorsal nerves in congenital adrenal hyperplasia.
  112. Faculty of 1000 evaluation for False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia.
  113. Faculty of 1000 evaluation for Presentation of primary adrenal insufficiency in childhood.
  114. Faculty of 1000 evaluation for Cardiovascular abnormalities and impaired exercise performance in adolescents with congenital adrenal hyperplasia.
  115. Faculty of 1000 evaluation for The effect of maternal vitamin d concentration on fetal bone.
  116. Faculty of 1000 evaluation for High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome.
  117. Faculty of 1000 evaluation for Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota.
  118. Faculty of 1000 evaluation for Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency.
  119. Faculty of 1000 evaluation for Dexamethasone Induces Germ Cell Apoptosis in the Human Fetal Ovary.
  120. Faculty of 1000 evaluation for Dietary intervention in infancy and later signs of beta-cell autoimmunity.
  121. Faculty of 1000 evaluation for Neonatal screening for congenital adrenal hyperplasia in Japan.
  122. Faculty of 1000 evaluation for Approach to the patient: the adult with congenital adrenal hyperplasia.
  123. Faculty of 1000 evaluation for Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits.
  124. Faculty of 1000 evaluation for Glucocorticoids and foetal heart maturation; implications for prematurity and foetal programming.
  125. Faculty of 1000 evaluation for Generic levothyroxine compared with synthroid in young children with congenital hypothyroidism.
  126. Faculty of 1000 evaluation for A prospective study of testicular sperm extraction in young versus adult patients with non-mosaic 47,XXY Klinefelter syndrome. Preliminary results.
  127. Faculty of 1000 evaluation for Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia.
  128. Faculty of 1000 evaluation for Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.
  129. Faculty of 1000 evaluation for Impact of Hydrocortisone on Adult Height in Congenital Adrenal Hyperplasia-The Minnesota Cohort.
  130. Faculty of 1000 evaluation for Growth hormone treatment for childhood short stature and risk of stroke in early adulthood.
  131. Faculty of 1000 evaluation for No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening.
  132. Faculty of 1000 evaluation for Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia.
  133. Faculty of 1000 evaluation for Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess.
  134. Adrenal Hyperplasia, Congenital
  135. Adrenal Hyperplasia, Congenital (CAH)
  136. Congenital Adrenal Hyperplasia
  137. Faculty of 1000 evaluation for The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.
  138. Faculty of 1000 evaluation for Anastrozole increases predicted adult height of short adolescent males treated with growth hormone: a randomized, placebo-controlled, multicenter trial for one to three years.
  139. Faculty of 1000 evaluation for Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
  140. Faculty of 1000 evaluation for Body fat and animal protein intakes are associated with adrenal androgen secretion in children.
  141. Faculty of 1000 evaluation for Transient Hypothyroidism at 3-Year Follow-Up among Cases of Congenital Hypothyroidism Detected by Newborn Screening.
  142. Faculty of 1000 evaluation for Obesity and sex steroid changes across puberty: evidence for marked hyperandrogenemia in pre- and early pubertal obese girls.
  143. Faculty of 1000 evaluation for Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway.
  144. Faculty of 1000 evaluation for Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty.
  145. Faculty of 1000 evaluation for Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.
  146. Faculty of 1000 evaluation for Final adult height in children with congenital adrenal hyperplasia treated with growth hormone.
  147. Faculty of 1000 evaluation for Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
  148. Faculty of 1000 evaluation for Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
  149. Faculty of 1000 evaluation for An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
  150. Faculty of 1000 evaluation for Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003.
  151. Faculty of 1000 evaluation for Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis.
  152. Faculty of 1000 evaluation for Anti-mullerian hormone is a marker of gonadotoxicity in pre- and postpubertal girls treated for cancer: a prospective study.
  153. Faculty of 1000 evaluation for Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.
  154. Faculty of 1000 evaluation for Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing.
  155. Faculty of 1000 evaluation for Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion.
  156. Faculty of 1000 evaluation for In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development.
  157. Faculty of 1000 evaluation for The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia.
  158. Faculty of 1000 evaluation for Long-term corticosteroid replacement and bone mineral density in adult women with classical congenital adrenal hyperplasia.
  159. Faculty of 1000 evaluation for Anatomical and functional outcomes of feminizing genitoplasty for ambiguous genitalia in patients with virilizing congenital adrenal hyperplasia.
  160. Faculty of 1000 evaluation for Role of 11βHSD Type 2 Enzyme Activity in Essential Hypertension and Children with Chronic Kidney Disease (CKD).
  161. Faculty of 1000 evaluation for Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.
  162. Faculty of 1000 evaluation for Hormones, context, and "Brain Gender": A review of evidence from congenital adrenal hyperplasia.
  163. Faculty of 1000 evaluation for Oral disposition index in obese youth from normal to prediabetes to diabetes: relationship to clamp disposition index.
  164. Faculty of 1000 evaluation for Early metformin therapy (age 8-12 years) in girls with precocious pubarche to reduce hirsutism, androgen excess, and oligomenorrhea in adolescence.
  165. Faculty of 1000 evaluation for Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
  166. Faculty of 1000 evaluation for Gender role behaviour in prenatally dexamethasone-treated children at risk for congenital adrenal hyperplasia--a pilot study.
  167. Faculty of 1000 evaluation for A Phase 2 Study of Chronocort®, a Modified-release Formulation of Hydrocortisone, in the Treatment of Adults with Classic Congenital Adrenal Hyperplasia.
  168. Faculty of 1000 evaluation for One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.
  169. Faculty of 1000 evaluation for Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients.
  170. Faculty of 1000 evaluation for A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (Chronocort) vs. conventional hydrocortisone (Cortef) in the treatment of congenital adrenal hyperplasia.
  171. Faculty of 1000 evaluation for Prenatal Dexamethasone Treatment of Children at Risk for Congenital Adrenal Hyperplasia: The Swedish Experience and Standpoint.
  172. Faculty of 1000 evaluation for Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.
  173. Faculty of 1000 evaluation for Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden.
  174. Faculty of 1000 evaluation for Health related quality of life of children and adolescents with congenital adrenal hyperplasia in Brazil.
  175. Faculty of 1000 evaluation for Prenatal androgenization affects gender-related behavior but not gender identity in 5-12-year-old girls with congenital adrenal hyperplasia.
  176. Faculty of 1000 evaluation for Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia.
  177. Faculty of 1000 evaluation for Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
  178. Faculty of 1000 evaluation for Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
  179. Faculty of 1000 evaluation for Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.
  180. Faculty of 1000 evaluation for Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia.
  181. Faculty of 1000 evaluation for Clinical review: Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis.
  182. Faculty of 1000 evaluation for Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate.
  183. Faculty of 1000 evaluation for Central diabetes insipidus in children and young adults: etiological diagnosis and long-term outcome of idiopathic cases.
  184. Faculty of 1000 evaluation for NIH working group report-using genomic information to guide weight management: From universal to precision treatment.
  185. Faculty of 1000 evaluation for NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
  186. Faculty of 1000 evaluation for Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
  187. Faculty of 1000 evaluation for New management strategy of pregnancies at risk of Congenital Adrenal Hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).
  188. Faculty of 1000 evaluation for Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results from the SEARCH for Diabetes in Youth.
  189. Faculty of 1000 evaluation for Testicular adrenal rest tumors develop independently of long-term disease control: A longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency.
  190. Faculty of 1000 evaluation for 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.
  191. Faculty of 1000 evaluation for 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.
  192. Faculty of 1000 evaluation for Expression of the human glucocorticoid receptor splice variants alpha, beta, and P in peripheral blood mononuclear leukocytes in healthy controls and in patients with hyper- and hypocortisolism.
  193. Faculty of 1000 evaluation for A TSHR-LH/CGR Chimera that Measures Functional Thyroid-Stimulating Autoantibodies (TSAb) Can Predict Remission or Recurrence in Graves' Patients Undergoing Antithyroid Drug (ATD) Treatment.
  194. Faculty of 1000 evaluation for 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.