Latronico Ana Claudia, Arnhold Ivo Jorge Prado
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Pediatr Endocrinol Rev. 2006 Sep;4(1):28-31.
The pituitary glycoprotein hormones, LH and FSH, and their receptors are essential for normal reproductive function in both sexes. Over the past 10 years, several inactivating mutations of the gonadotropin receptors have been described in rare forms of human primary gonadal disorders. Homozygous or compound heterozygous inactivating mutations of the LH receptor were associated with a rare autosomal recessive form of male pseudohermaphroditism (Leydig cell hypoplasia), micropenis and hypergonadotropic hypogonadism in genetic males. In addition, these mutations caused primary or secondary amenorrhea and infertility in women who were sisters of male pseudohermaphrodites. Similarly, FSH receptor inactivating mutations were associated with partial or complete phenotypes of premature ovarian failure in women. These inactivating mutations corroborate and extend our knowledge of clinical consequences of gonadotropin resistance and inappropriate gonadotropin action. In addition, the characterization of the molecular basis of gonadal resistance can be useful for directing therapy and for genetic counseling.
垂体糖蛋白激素、促黄体生成素（LH）和促卵泡生成素（FSH）及其受体对于两性的正常生殖功能至关重要。在过去10年里，已在罕见的人类原发性性腺疾病形式中描述了几种促性腺激素受体的失活突变。促黄体生成素受体的纯合或复合杂合失活突变与一种罕见的常染色体隐性形式的男性假两性畸形（莱迪希细胞发育不全）、小阴茎以及遗传男性的高促性腺激素性性腺功能减退有关。此外，这些突变导致男性假两性畸形患者的姐妹出现原发性或继发性闭经及不孕。同样，促卵泡生成素受体失活突变与女性部分或完全性卵巢早衰的表型有关。这些失活突变证实并扩展了我们对促性腺激素抵抗和不适当促性腺激素作用的临床后果的认识。此外，性腺抵抗分子基础的特征描述有助于指导治疗和进行遗传咨询。
