临床表现的遗传缺陷影响促性腺激素及其受体。
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康威GS
临床表现的遗传缺陷影响促性腺激素及其受体。
中国性(Oxf)。1996年12月,45 (6):657 - 63。
- PubMed ID
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9039330 (在PubMed]
- 文摘
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提高活动的LH轴激活LH受体基因的突变引起的礼物男孩性早熟,类似于演讲的LH分泌垂体腺瘤(Faggiano et al ., 1983;Ambrosi et al ., 1990)。韩“多动症”的女性似乎没有影响。多动引起的FSH轴通过激活FSH受体基因的突变可能平行的FSH分泌垂体腺瘤与滋养细胞肥大在男性(赫塞尔廷et al ., 1989)或可逆的女性卵巢功能早衰(摩西et al ., 1986;奥田硕et al ., 1989)。事实上第一个这样的情况被描述是一个男性睾丸体积和维护生育缺乏促性腺激素(Gromoll et al ., 1996)。女性性早熟可能需要多动的促性腺激素轴,因为“两个卵巢雌激素所需安排生产。Gs alpha-subunit基因的突变可以模拟这种情况在一些女性McCune-Albright综合症(Malchoff et al ., 1994)。缺乏LH LHβ分子活动造成的缺陷会导致男性不育,造成灭活LH受体基因的突变导致男性睾丸间质细胞发育不全而雌性卵巢发展是相对正常。缺乏FSH FSHβ活动造成的缺陷导致女性不孕,而灭活突变引起的FSH受体基因导致女性卵巢发育不全但只有变量男性精子形成的抑郁。 Incidentally, this categorization of reproductive disorders may also be applied to the TSH axis. Pituitary adenomas and activating mutations of the TSH receptor gene (Parma et al., 1993) cause hyperthyroidism and TSH beta gene defects (Hayashizaki et al., 1989) and inactivating mutations of the TSH receptor gene (Sunthornthepvarakul et al., 1995) cause hypothyroidism. To complete the analogy with thyroid disorders, it is curious that despite structural similarities with the TSH receptor, neither LH nor FSH receptor autoantibodies have a prominent role in ovarian pathophysiology (Moncayo et al., 1989; Van Weissenbruch et al., 1991; Simoni et al., 1993). Complete gonadotrophin resistance is likely to be very rare, however, so what are we likely to find in partial gonadotrophin resistance? Might the "resistant ovary syndrome' come right in the end, with corresponding minor FSH receptor mutations? Experience with insulin and androgen resistance syndromes suggests that such a scenario is unlikely. Insulin receptor gene mutations are found in extreme Type A insulin resistance but not in moderate forms of insulin resistance (O'Rahilly et al., 1991). Androgen receptor gene mutations are found in nearly all cases of complete androgen insensitivity but rarely in partial forms (Patterson et al., 1994). Mild resistance to hormone action is rarely detectable in relatives who are heterozygous for receptor mutations which are inherited in a recessive pattern. It seems unlikely therefore, that individuals heterozygous for inactivating receptor mutations will manifest symptoms of reproductive disorders and account for common conditions. Thus, while mutation analysis provides new insights into the gender specific role of the gonadotrophins the cause of early gonadal failure in the majority of individuals remains a mystery.