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Isolated Hypogonadotrophic Hypogonadism (IHH) due to GNRH1 gene mutation

Posted by Yared Demssie on 19 June, 2009

This interesting article discusses a newly described homozygous mutation of GNRH 1 as a cause of non-syndromic normosmic IHH in two members of a family from a non-consanginous marriage. GNRH receptor gene mutations have previously been described as a cause of familial and sporadic IHH, but these two cases are the first GNRH1 gene mutations described in humans. The article also summarizes the genetic defects encountered in anosmic IHH. http://content.nejm.org/cgi/content/full/NEJMoa0900136


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