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Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

Authors: Bouligand, J  Ghervan, C  Tello, JA  Brailly-Tabard, S  Salenave, S  Chanson, P  Lombes, M  Millar, RP  Guiochon-Mantel, A  Young, J 
Citation: Bouligand J, etal., N Engl J Med. 2009 Jun 25;360(26):2742-8. doi: 10.1056/NEJMoa0900136. Epub 2009 Jun 17.
Pubmed: (View Article at PubMed) PMID:19535795
DOI: Full-text: DOI:10.1056/NEJMoa0900136

We investigated whether mutations in the gene encoding gonadotropin-releasing hormone 1 (GNRH1) might be responsible for idiopathic hypogonadotropic hypogonadism (IHH) in humans. We identified a homozygous GNRH1 frameshift mutation, an insertion of an adenine at nucleotide position 18 (c.18-19insA), in the sequence encoding the N-terminal region of the signal peptide-containing protein precursor of gonadotropin-releasing hormone (prepro-GnRH) in a teenage brother and sister, who had normosmic IHH. Their unaffected parents and a sibling who was tested were heterozygous. This mutation results in an aberrant peptide lacking the conserved GnRH decapeptide sequence, as shown by the absence of immunoreactive GnRH when expressed in vitro. This isolated autosomal recessive GnRH deficiency, reversed by pulsatile GnRH administration, shows the pivotal role of GnRH in human reproduction.

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RGD Object Information
RGD ID: 9685134
Created: 2014-12-17
Species: All species
Last Modified: 2014-12-17
Status: ACTIVE



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