All Stories

  1. Disorders of sex development: timing of diagnosis and management in a single large tertiary center
  2. Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
  3. Modeling development of human embryonic stem cells to gonadal-like cells
  4. Precocious Puberty or Premature Thelarche: Analysis of a Large Patient Series in a Single Tertiary Center with Special Emphasis on 6- to 8-Year-Old Girls
  5. Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center
  6. Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene
  7. Development of Gonadotropin-Releasing Hormone-Secreting Neurons from Human Pluripotent Stem Cells
  8. Circulating makorin ring finger protein 3 levels decline in boys before the clinical onset of puberty
  9. Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism
  10. MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism: Table 1
  11. Childhood growth in boys with congenital hypogonadotropic hypogonadism
  12. A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty
  13. Letter to the Editor: Comment On The Treatment Of Adolescent Boys With Hypogonadotropic Hypogonadism By Gong C., et al
  14. Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism
  15. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
  16. Gonadotropin-releasing hormone receptor mutations in ageing men
  17. Combined negative effect of donor age and time in culture on the reprogramming efficiency into induced pluripotent stem cells
  18. Health-related quality of life in male patients with congenital hypogonadotropic hypogonadism
  19. Comment on reversal of hypogonadotropic hypogonadism in a Chinese cohort
  20. Gonadotrophin replacement for induction of fertility in hypogonadal men
  21. Neural Progenitor Cells Derived from Human Embryonic Stem Cells as an Origin of Dopaminergic Neurons
  22. Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations
  23. Neural crest cells: From developmental biology to clinical interventions
  24. Genetics of congenital hypogonadotropic hypogonadism in Denmark
  25. Childhood growth of females with Kallmann syndrome andFGFR1mutations
  26. De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss
  27. High frequency of FGFR1 mutations in patients with congenital hypogonadotropic hypogonadism and split hand/foot malformation
  28. Notch signaling regulates the differentiation of neural crest from human pluripotent stem cells
  29. Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism
  30. Serum FGF21 increases with hepatic fat accumulation in pediatric onset intestinal failure
  31. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism
  32. Hereditary myopathy with early respiratory failure: occurrence in various populations
  33. PROKR2 mutations in autosomal recessive Kallmann syndrome
  34. A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism
  35. CHARGE syndrome and Kallmann syndrome: are the two genetically related?
  36. Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations
  37. Cholesterol Metabolism Altered and FGF21 Levels High After Pediatric Liver Transplantation Despite Normal Serum Lipids
  38. Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B
  39. Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia
  40. Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism
  41. Circulating Anti-Müllerian Hormone Levels in Adult Men Are under a Strong Genetic Influence
  42. Genetic Overlap between Holoprosencephaly and Kallmann Syndrome
  43. Decrease in circulating fibroblast growth factor 21 after an oral fat load is related to postprandial triglyceride-rich lipoproteins and liver fat
  44. Isolated cryptorchidism: No evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism
  45. Serum FGF21 in boys with idiopathic short stature: relationship to lipid profile, onset of puberty and growth*
  46. The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty
  47. Gain-of-Function Mutation in FGFR1 in Human GnRH Deficiency
  48. Intra-articular corticoid injection induces circulating glucocorticoid bioactivity and systemic immune activation in juvenile idiopathic arthritis
  49. Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins
  50. Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
  51. Liver Fat But Not Other Adiposity Measures Influence Circulating FGF21 Levels in Healthy Young Adult Twins
  52. Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
  53. LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty
  54. Comparison of solution-based exome capture methods for next generation sequencing
  55. LIN28Bin Constitutional Delay of Growth and Puberty
  56. Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer
  57. Glucocorticoid bioactivity does not predict response to steroid therapy in severe pediatric ulcerative colitis
  58. Complex Genetics in Idiopathic Hypogonadotropic Hypogonadism
  59. High-sensitivity C-reactive protein in paediatric inflammatory bowel disease
  60. Serum glucocorticoids and adiponectin associate with insulin resistance in children born small for gestational age
  61. Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism
  62. Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism
  63. Circulating Adiponectin as a Marker for Glucocorticoid-related Side Effects in Children and Adolescents With Inflammatory Bowel Disease
  64. Circulating Glucocorticoid Bioactivity During Peroral Glucocorticoid Treatment in Children and Adolescents With Inflammatory Bowel Disease
  65. Bone turnover and metabolism in paediatric patients with inflammatory bowel disease treated with systemic glucocorticoids
  66. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
  67. Relative Roles of Inhibin B and Sex Steroids in the Negative Feedback Regulation of Follicle-Stimulating Hormone in Men across the Full Spectrum of Seminiferous Epithelium Function
  68. Reversal of Idiopathic Hypogonadotropic Hypogonadism
  69. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
  70. The effects of short-term oral phytoestrogen supplementation on the hypothalamic-pituitary-testicular axis in prostate cancer patients
  71. Are Adolescent Boys with Klinefelter Syndrome Androgen Deficient? A Longitudinal Study of Finnish 47,XXY Boys
  72. Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome
  73. Methylprednisolone Exposure in Pediatric Renal Transplant Patients
  74. Identification of glucocorticoid-response genes in children with acute lymphoblastic leukemia
  75. Fecal calprotectin remains high during glucocorticoid therapy in children with inflammatory bowel disease
  76. Mifepristone may inhibit the midcycle gonadotropin surge at both ovarian and pituitary sites of action
  77. Circulating Antiandrogenic Activity in Children with Congenital Adrenal Hyperplasia during Peroral Flutamide Treatment
  78. Late follicular phase administration of mifepristone suppresses circulating leptin and FSH - mechanism(s) of action in emergency contraception?
  79. Circulating Glucocorticoid Bioactivity in the Preterm Newborn after Antenatal Betamethasone Treatment
  80. Klinefelter Syndrome in Adolescence: Onset of Puberty Is Associated with Accelerated Germ Cell Depletion
  81. Serum Androgen Bioactivity in Adolescence: A Longitudinal Study of Boys with Constitutional Delay of Puberty
  82. Serum Androgen Bioactivity in Cryptorchid and Noncryptorchid Boys during the Postnatal Reproductive Hormone Surge
  83. Reduced circulating androgen bioactivity in patients with prostate cancer
  84. Termination of Pregnancy with Mifepristone and Prostaglandin Suppresses Transiently Circulating Glucocorticoid Bioactivity
  85. Transactivation Assay for Determination of Glucocorticoid Bioactivity in Human Serum
  86. Inhibins in childhood and puberty
  87. Activation of the Bone Morphogenetic Protein Signaling Pathway Induces Inhibin βB-Subunit mRNA and Secreted Inhibin B Levels in Cultured Human Granulosa-Luteal Cells
  88. Novel Assay for Determination of Androgen Bioactivity in Human Serum1
  89. Inverse Relationship between Serum Inhibin B and FSH Levels in Prepubertal Boys with Cryptorchidism
  90. Biphasic Increase in Serum Inhibin B during Puberty: A Longitudinal Study of Healthy Finnish Boys
  91. Treatment of prepubertal gonadotrophin-deficient boys with recombinant human follicle-stimulating hormone
  92. Circulating luteinizing hormone receptor inhibitor(s) in boys with chronic renal failure