Article
Novel homozygous splice acceptor site GnRH receptor (GnRHR) mutation: human GnRHR "knockout".
The Journal of clinical endocrinology and metabolism - 1 Jun 2002
Silveira L F G, Stewart P M, Thomas M, Clark D A, Bouloux P M G, MacColl G S
Abstract excerpt
Mutations in the GnRH receptor (GnRHR) have been shown to be responsible for a significant number of autosomic recessive and, less commonly, sporadic cases of idiopathic hypogonadotropic hypogonadism. We describe a woman with complete GnRH resistance secondary to a novel homozygous GnRHR gene mutation, transmitted as an autosomal recessive trait. The propositus presented with primary amenorrhea and absent...
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