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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).

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

A Homozygous R262Q Mutation in the Gonadotropin-Releasing Hormone Receptor Presenting as Constitutional Delay of Growth and Puberty with Subsequent Borderline Oligospermia