Genetics of human hypogonadotropic hypogonadism

Research output: Contribution to journalReview articlepeer-review

57 Scopus citations


Humans with hypogonadotropic hypogonadism (HH) manifest irreversible pubertal delay, infertility, and low serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Although the genetic basis of this condition is largely unknown, mutations have been identified in approximately 5-10% of HH patients. Mutations in the KAL gene (Kallmann syndrome) and the AHC gene (adrenal hypoplasia congenita/HH) cause X-linked recessive HH. Autosomal recessive HH may be brought about by mutations in the gonadotropin-releasing hormone receptor, leptin, and the leptin receptor genes. Isolated deficiencies of the gonadotropins FSH and LH are due to corresponding β-subunit genes. PROP1 gene mutations lead to combined pituitary deficiency, and HESX gene mutations result in septo-optic dysplasia, both of which include HH. These identified gene mutations advance our understanding of normal hypothalamic-pituitary-gonadal function. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)240-248
Number of pages9
JournalAmerican Journal of Medical Genetics - Seminars in Medical Genetics
Issue number4
StatePublished - Dec 29 1999


  • Adrenal hypoplasia congenita
  • Delayed puberty (genetics)
  • Gonadotropin genes
  • Idiopathic hypogonadotropic hypogonadism
  • Kallmann syndrome
  • Septo-optic dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Genetics of human hypogonadotropic hypogonadism'. Together they form a unique fingerprint.

Cite this