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A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency.

Abstract
GNRH1, the human gene that gives rise to GnRH, has long been an obvious candidate gene for idiopathic hypogonadotropic hypogonadism, particularly because the hpg mouse, a mouse model of isolated hypogonadotropic hypogonadism, carries a deletion that disrupts Gnrh1. In 2009, 25 years after the sequence of human GNRH1 was initially determined, two groups independently reported homozygous frameshift mutations in GNRH1 in patients with idiopathic hypogonadotropic hypogonadism. In two additional families, heterozygous GNRH1 mutations segregated with reproductive disorders. In the first family, the mutation occurred alone in five female subjects with idiopathic hypogonadotropic hypogonadism, whereas in the second it co-existed with a mutation in NR0B1/DAX1 in two female subjects with delayed puberty. While hemizygous mutations the X-linked NR0B1 are a well-known cause of hypogonadotropic hypogonadism and adrenal hypoplasia in male patients, heterozygous female carriers are generally asymptomatic. Thus, mutations in GNRH1 have been associated with both mild and severe forms of GnRH deficiency, and may work in combination with other gene mutations to produce GnRH-deficient phenotypes.
AuthorsYee-Ming Chan
JournalMolecular and cellular endocrinology (Mol Cell Endocrinol) Vol. 346 Issue 1-2 Pg. 51-6 (Oct 22 2011) ISSN: 1872-8057 [Electronic] Ireland
PMID21722705 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
CopyrightCopyright © 2011 Elsevier Ireland Ltd. All rights reserved.
Chemical References
  • Protein Precursors
  • progonadoliberin I
  • Gonadotropin-Releasing Hormone
Topics
  • Animals
  • Gonadotropin-Releasing Hormone (deficiency, genetics)
  • Heterozygote
  • Homozygote
  • Humans
  • Mutation (genetics)
  • Phenotype
  • Protein Precursors (genetics)

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