Vesely D L, Bower R H, Kohler P O, Char F
Am J Med Sci. 1980 Nov-Dec;280(3):157-66. doi: 10.1097/00000441-198011000-00004.
Three phenotypic female sisters in a sibship of four sisters and one brother were found to have pure ovarian dysgenesis, which was confirmed by the finding of streak gonads at laparotomy in two of the three sisters who presented with amenorrhea and lack of secondary sexual characteristics. No evidence of any other congenital anomaly was found in any of these sisters. Pure gonadal dysgenesis syndrome distinguishes a group of women with primary gonadal failure with amenorrhea whose heights are over 152 cm and who are without either webbed necks or any of the other somatic anomalies that are characteristic of Turner's syndrome. Cytogenetic studies revealed a normal female (46,XX) karyotype in all the affected members. Endocrine studies indicated that the affected sisters had elevated FSH and LH values with decreased plasma estradiol and urinary estrogen determinations. This is the second report of a family with 46,XX karyotype that meets all the criteria for the pure gonadal dysgenesis syndrome. The multiple affected sibs suggests an autosomal recessive mode of inheritance.
在一个有四姐妹和一个兄弟的家庭中，发现三名表型为女性的姐妹患有单纯性卵巢发育不全。其中两名出现闭经且缺乏第二性征的姐妹在剖腹手术中发现条索状性腺，从而证实了这一诊断。在这些姐妹中，未发现任何其他先天性异常的证据。单纯性腺发育不全综合征是指一组原发性性腺功能衰竭且闭经的女性，她们身高超过152厘米，没有蹼颈或特纳综合征特有的任何其他躯体异常。细胞遗传学研究显示，所有受影响成员的核型均为正常女性（46,XX）。内分泌研究表明，受影响的姐妹促卵泡生成素（FSH）和促黄体生成素（LH）值升高，血浆雌二醇和尿雌激素测定值降低。这是第二例符合单纯性腺发育不全综合征所有标准的46,XX核型家庭报告。多名受影响的同胞提示为常染色体隐性遗传模式。
