| 词条 | Gonadotropin-releasing hormone insensitivity |
| 释义 |
| name = | synonyms = | image = | caption = | pronounce = | field = endocrinology | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Gonadotropin-releasing hormone (GnRH) insensitivity is a rare autosomal recessive genetic and endocrine syndrome which is characterized by inactivating mutations of the gonadotropin-releasing hormone receptor (GnRHR) and thus an insensitivity of the receptor to gonadotropin-releasing hormone (GnRH), resulting in a partial or complete loss of the ability of the gonads to synthesize the sex hormones. The condition manifests itself as isolated hypogonadotropic hypogonadism (IHH), presenting with symptoms such as delayed, reduced, or absent puberty, low or complete lack of libido, and infertility, and is the predominant cause of IHH when it does not present alongside anosmia.[1][2][3] See also
References1. ^{{cite journal |vauthors=Chevrier L, Guimiot F, de Roux N | title = GnRH receptor mutations in isolated gonadotropic deficiency | journal = Molecular and Cellular Endocrinology | volume = 346 | issue = 1–2 | pages = 21–8 |date=October 2011 | pmid = 21645587 | doi = 10.1016/j.mce.2011.04.018 | url = http://linkinghub.elsevier.com/retrieve/pii/S0303-7207(11)00226-7}} 2. ^{{cite journal |vauthors=Beate K, Joseph N, Nicolas de R, Wolfram K | title = Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes | journal = International Journal of Endocrinology | volume = 2012 | issue = | pages = 1–9 | year = 2012 | pmid = 22229029 | pmc = 3249753 | doi = 10.1155/2012/147893 | url = }} 3. ^{{cite journal | author = de Roux N | title = GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency | journal = Best Practice & Research. Clinical Endocrinology & Metabolism | volume = 20 | issue = 4 | pages = 515–28 |date=December 2006 | pmid = 17161329 | doi = 10.1016/j.beem.2006.10.005 | url = http://linkinghub.elsevier.com/retrieve/pii/S1521-690X(06)00084-4}} External links{{Medical resources| DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = article | eMedicineTopic = 255152 | MeshID = }}{{Endocrine pathology}}{{Receptor deficiencies}}{{Genetic-disorder-stub}} 5 : Autosomal recessive disorders|Endocrine gonad disorders|Gonadotropin-releasing hormone and gonadotropins|Rare diseases|Syndromes |
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