Smith Y R, Stetten G, Charity L, Isacson C, Gearhart J P, Namnoum A B
Department of Gynecology and Obstetrics, The John Hopkins Medical School, Baltimore, Maryland, USA.
Urology. 1996 Feb;47(2):259-62. doi: 10.1016/S0090-4295(99)80431-2.
A 66-year-old woman presented with clitoromegaly since childhood, primary amenorrhea, no breast development, and a large right inguinal hernia. A mosaic karyotype was identified containing a predominant 45,X cell line and a cell line with 46 chromosomes, one X chromosome, and a small dicentric Y chromosome with a breakpoint in band qII.2. The patient underwent hysterectomy, bilateral gonadectomy, inguinal hernia repair, clitoral recession, and formation of a neointroitus. A dysgerminoma was identified in the right dysgenetic gonad. This report demonstrates the natural history of untreated mixed gonadal dysgenesis and the importance of early evaluation and treatment, as well as the molecular characterization of a dicentric Y chromosome.
一名66岁女性自幼出现阴蒂肥大、原发性闭经、乳房未发育及右侧腹股沟大疝。鉴定出一种嵌合核型，主要包含45,X细胞系和一个具有46条染色体的细胞系，其中一条X染色体和一条小的双着丝粒Y染色体，其断裂点位于qII.2带。患者接受了子宫切除术、双侧性腺切除术、腹股沟疝修补术、阴蒂退缩术及新阴道口形成术。在右侧发育异常的性腺中发现了无性细胞瘤。本报告展示了未经治疗的混合性性腺发育不全的自然病程、早期评估和治疗的重要性，以及双着丝粒Y染色体的分子特征。
