Portuondo J A, Neyro J L, Benito J A, de los Rios A, Barral A
Int J Fertil. 1987 Jan-Feb;32(1):56-8.
Two sisters, ages 18 and 25, presented with primary amenorrhea and underwent clinical, hormonal, cytogenetic, and pathologic evaluation. Both were of normal stature and lacking of somatic stigmata. Both patients had normal 46,XX karyotype on peripheral blood. Streak gonads were seen in both patients and a rather scanty number of primordial follicles was found in one patient. FSH, LH, and urinary estrogens were consistent with streak gonad syndrome. Autosomal recessive inheritance has been suggested in familial aggregates with XX gonadal dysgenesis.
两名姐妹，年龄分别为18岁和25岁，出现原发性闭经，并接受了临床、激素、细胞遗传学和病理学评估。两人身材正常，无躯体特征。两名患者外周血的核型均为正常的46,XX。两名患者均可见条索状性腺，其中一名患者发现的原始卵泡数量较少。促卵泡生成素（FSH）、促黄体生成素（LH）和尿雌激素水平与条索状性腺综合征相符。在XX性腺发育不全的家族聚集病例中，有人提出是常染色体隐性遗传。
