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.[1][2][3]
See also[edit | edit source]
- GnRH and gonadotropins
- Hypogonadotropic hypogonadism
- Hypopituitarism
- Inborn errors of steroid metabolism
- Kallmann syndrome
- Leydig cell hypoplasia
- Sex hormones
References[edit | edit source]
External links[edit | edit source]
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