The molecular basis of human hypogonadotropic hypogonadism

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23 Scopus citations


Patients with hypogonadotropic hypogonadism (HH) present with delayed puberty, infertility, and low serum gonadotropins. The molecular basis for most cases of HH is unknown, but single gene mutations have been described for some hypothalamic and pituitary genes. Kallmann syndrome due to KAL gene mutations and adrenal hypoplasia congenita/HH caused by AHC gene mutations are both X-linked recessive disorders. Mutations in the gonadotropin releasing hormone receptor, leptin, and the leptin receptor cause autosomal recessive HH. In addition, isolated deficiencies of follicle stimulating hormone and luteinizing hormone in the corresponding specific β-subunit genes and PROP1 gene mutations represent pituitary deficiency states, resulting in a phenotype of HH. Despite these remarkable advances in our understanding of human HH, the cause of approximately 90% remains unknown.

Original languageEnglish (US)
Pages (from-to)191-199
Number of pages9
JournalMolecular Genetics and Metabolism
Issue number2
StatePublished - Oct 1999
Externally publishedYes


  • Adrenal hypoplasia congenita
  • Delayed puberty
  • Genetics
  • Idiopathic hypogonadotropic hypogonadism
  • Kallmann syndrome

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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