Clinical features of women with resistance to luteinizing hormone
Clinical features of women with resistance to luteinizing hormone
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DOI：
10.1046/j.1365-2265.1999.00863.x
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发表时间：
1999-12-01
影响因子：
3.2
通讯作者：
Mendonca, BB
中科院分区：
文献类型：
--
作者：
Arnhold, IJP;Latronico, AC;Mendonca, BB
目的回顾新发和已发表的女性黄体生成素耐药性的临床和激素特征。患者7例姐妹性男性假雌雄同体患者。临床特征，激素水平，盆腔超声和分子研究。结果：(1)女性外生殖器正常；(2) 9-13岁乳房和阴毛自发发育；(3) 12-20岁月经初潮，随后月经周期不规则（3周至15个月）；(4)不孕;(5)黄体酮给药后停药出血；(6)血清LH水平升高（10-38 IU/I，正常0.9-8.4），LH/FSH比值升高，雄激素水平正常；(7)卵泡期雌二醇水平低或正常；(8)子宫正常或小，卵巢大小正常或增大，超声检查有一个或多个囊肿。卵巢活检显示窦卵泡，确认排卵不足。4例患者LH受体基因外显子11均出现1个纯合突变，其中无义突变1个（Arg554Stop），错义突变2个（Glu354Lys和Ala593Pro），微缺失1个（Leu-608、Val-609）。在具有相同表型特征的3例患者（1个家族）中，未发现LH受体基因编码序列突变。结论：黄体生成素抵抗的女性有乳房自发发育、原发性或继发性闭经、不孕症、血清LH水平和LH/FSH比升高，雄激素水平正常，卵巢囊肿正常或增大。因此，在女性中，第一和第二性征的发展独立于LH的作用。然而，促黄体生成素是正常卵巢激素生成和排卵所必需的。
OBJECTIVE To review clinical and hormonal characteristics of new and published females with LH resistance.PATIENTS Seven sisters of patients with male pseudohermaphroditism due to LH resistance.MEASUREMENTS Clinical characteristics, hormonal levels, pelvic ultrasound and molecular studies.RESULTS Patients had: (1) normal female external genitalia; (2) spontaneous breast and pubic hair development at ages 9-13 years; (3) menarche at 12-20 years, followed by irregular menstrual cycles (3 weeks to 15 months); (4) infertility; (5) withdrawal bleeding after progesterone administration; (6) elevated serum LH levels (10-38 IU/I, normal 0.9-8.4) and elevated LH/FSH ratio with normal androgen levels; (7) low or normal oestradiol levels for the follicular phase; and (8) normal or small uterus and normal or increased ovary size with one or more cysts at ultrasound examination. Ovarian biopsy showed antral follicles and confirmed lack of ovulation. One homozygous mutation in exon 11 of the LH receptor gene was found in each of 4 patients: 1 nonsense (Arg554Stop) and 2 missense mutations (Glu354Lys and Ala593Pro) and 1 microdeletion (Leu-608, Val-609) were found. In 3 patients (1 family) with the same phenotypic characteristics, no mutations in the coding sequence of the LH receptor gene were found.CONCLUSIONS We conclude that women with LH resistance have spontaneous breast development, primary or secondary amenorrhoea, infertility, elevated serum LH levels and LH/FSH ratio with normal androgen levels and normal or enlarged cystic ovaries. Therefore, in females, primary and secondary sexual characteristics develop independently of LH action. However, LH stimulation is necessary for normal ovarian steroidogenesis and ovulation.