Gonadotropin-releasing hormone insensitivity
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.
- Hypogonadotropic hypogonadism
- Kallmann syndrome
- Leydig cell hypoplasia
- Inborn errors of steroid metabolism
- GnRH and gonadotropins
- Sex hormones
- Chevrier L, Guimiot F, de Roux N (October 2011). "GnRH receptor mutations in isolated gonadotropic deficiency". Molecular and Cellular Endocrinology 346 (1-2): 21–8. PMID 21645587. doi:10.1016/j.mce.2011.04.018.
- Beate K, Joseph N, Nicolas de R, Wolfram K (2012). "Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes". International Journal of Endocrinology 2012: 147893. PMC 3249753. PMID 22229029. doi:10.1155/2012/147893.
- de Roux N (December 2006). "GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency". Best Practice & Research. Clinical Endocrinology & Metabolism 20 (4): 515–28. PMID 17161329. doi:10.1016/j.beem.2006.10.005.
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