Beck-Peccoz P, Romoli R, Persani L
Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, Italy.
J Endocrinol Invest. 2000 Oct;23(9):566-72. doi: 10.1007/BF03343777.
Gonadotropins control male and female gonadal function by acting through specific receptors. The recent description of several mutations in LH and FSH receptors has significantly improved our understanding of the pathophysiology of several sexual disorder. Both gain- and loss-of-function germline mutations leading to constitutive receptor activation or to hormone resistance have been described. The clinical impact of these mutant receptors can be markedly different, depending upon the sex of the affected patient and the degree of functional alteration. Numerous mutations were described in LH receptor gene. Constitutive activation of this receptor leads to male-limited precocious pseudopuberty, whereas hypergonadotropic hypogonadism is the clinical phenotype of LH resistance. On the other hand, few mutations of FSH receptor were described so far. Inactivating mutations of FSH receptor are involved in some cases of hypergonadotropic hypogonadism with a more severe impairment of fertility in female patients. Only one gain-of-function mutation of FSH receptor was reported to maintain fertility in one hypophysectomized man. This review is focused on the known genetic alterations of gonadotropic receptors in humans and their impact on male sexual differentiation and fertility.
促性腺激素通过作用于特定受体来控制男性和女性的性腺功能。最近对促黄体生成素（LH）和促卵泡生成素（FSH）受体的几种突变的描述，显著增进了我们对几种性发育障碍病理生理学的理解。已经描述了导致受体组成性激活或激素抵抗的功能获得性和功能丧失性种系突变。这些突变受体的临床影响可能有显著差异，这取决于受影响患者的性别和功能改变的程度。促黄体生成素受体基因中有许多突变被描述。该受体的组成性激活导致男性局限性性早熟假性青春期，而促性腺激素分泌过多性性腺功能减退是促黄体生成素抵抗的临床表型。另一方面，到目前为止，促卵泡生成素受体的突变很少被描述。促卵泡生成素受体的失活突变在一些促性腺激素分泌过多性性腺功能减退的病例中起作用，女性患者的生育能力受损更严重。据报道，只有一例促卵泡生成素受体的功能获得性突变能使一名垂体切除的男性维持生育能力。本综述聚焦于人类促性腺激素受体已知的基因改变及其对男性性分化和生育能力的影响。
