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

Lin Lin | Zendy; Gerard S. Conway | Zendy; Nathan R. Hill | Zendy; Mehul Dattani | Zendy; Peter C. Hindmarsh | Zendy; John C. Achermann | Zendy

Open Access

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

Author(s) -

Lin Lin,

Gerard S. Conway,

Nathan R. Hill,

Mehul Dattani,

Peter C. Hindmarsh,

John C. Achermann

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-0807

Subject(s) - gnrhr , hypogonadotropic hypogonadism , delayed puberty , endocrinology , medicine , proband , kallmann syndrome , gonadotropin , biology , gonadotropin releasing hormone , luteinizing hormone , hormone , mutation , genetics , gene , disease , covid-19 , infectious disease (medical specialty)

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).

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