A Homozygous R262Q Mutation in the Gonadotropin-Releasing Hormone Receptor Presenting as Constitutional Delay of Growth and Puberty with Subsequent Borderline Oligospermia
نویسندگان
چکیده
منابع مشابه
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
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...
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Does being of short stature (SS) matter? Growth studies are important because endocrinologists need to be able to give not only diagnostic but also prognostic indication to those of SS, and give advice for or against treatment. Studies on body height may give significant insight into the behavioural-hypothalamic-pituitary axis underlying the surface effect on social behaviour. This research pre...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2006
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2006-0807