de Roux N, Milgrom E
INSERM U.135-Hormones, Gènes et Reproduction, Laboratoire d'Hormonologie et de Biologie Moléculaire, Hopital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France.
Mol Cell Endocrinol. 2001 Jun 20;179(1-2):83-7. doi: 10.1016/s0303-7207(01)00471-3.
Gonadotropin and GnRH receptors belong to the family of G protein coupled receptors. Gain of function mutations have been described, yielding constitutively active receptors. In the case of the LH receptor these dominant mutations determine familial male limited precocious puberty. Somatic mutations of this receptor may in some cases provoke Leydig-cell adenomas. The constitutive LH receptor is not associated with female precocious puberty. Inactivating mutations are recessive. Alterations in the GnRH receptor determine hypogonadotropic hypogonadism. The clinical diagnosis of this etiology of hypogonadism is extremely difficult, especially in sporadic cases. Mutations of gonadotropin receptors determine primary amenorrhea in girls, whereas in boys they are responsible for Leydig cell aplasia or hypoplasia (LH receptor) or of a variable alteration of spermatogenesis (FSH receptor). Mutations provoking only partial alterations of receptor functions are relatively more frequent, than those inducing complete receptor inactivity. They provide interesting insights into the physiology of GnRH and gonadotropin action.
促性腺激素和GnRH受体属于G蛋白偶联受体家族。已经描述了功能获得性突变，产生组成型活性受体。就促黄体生成素（LH）受体而言，这些显性突变决定了家族性男性局限性性早熟。该受体的体细胞突变在某些情况下可能引发睾丸间质细胞瘤。组成型LH受体与女性性早熟无关。失活突变是隐性的。GnRH受体的改变决定了低促性腺激素性性腺功能减退。这种性腺功能减退病因的临床诊断极其困难，尤其是在散发病例中。促性腺激素受体的突变决定了女孩的原发性闭经，而在男孩中，它们导致睾丸间质细胞发育不全或发育不良（LH受体）或精子发生的可变改变（FSH受体）。引起受体功能仅部分改变的突变比诱导受体完全失活的突变相对更常见。它们为GnRH和促性腺激素作用的生理学提供了有趣的见解。
