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Article

Isolated Familial Hypogonadotropic Hypogonadism and a<i>GNRH1</i>Mutation

18 Jun 2009

Abstract excerpt

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...

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PMID: 19535795
DOI: 10.1056/nejmoa0900136

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