Isolated Hypogonadotrophic Hypogonadism (IHH) due to GNRH1 gene mutation

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.

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