Article
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
The Journal of clinical endocrinology and metabolism - 1 Dec 2006
Lin Lin, Conway Gerard S, Hill Nathan R, Dattani Mehul T, Hindmarsh Peter C, Achermann John C
Abstract excerpt
CONTEXT: The GnRH receptor plays a central role in regulating gonadotropin synthesis and release, and several mutations in the GNRHR gene have been reported in patients with idiopathic or familial forms of isolated hypogonadotropic hypogonadism (IHH). OBJECTIVE: The objective of the study was to investigate whether partial loss-of-function mutations in the GnRH receptor might be responsible for delayed puberty...
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