46, XY female disorder of sex development (46, XY DSD), a rare genetic disease, includes two subtypes according to its possible mechanism: gonadal dysgenesis and androgen synthesis defect or dysfunction according to its possible mechanisms. The genetic background is complex, in which a variety of genetic factors are involved. The gonadal dysgenesis is related to many genes such as SRY, WT1, SF1, SOX9, DAX-1 or DMRT1. Gene mutations in other genes such as CYP17A1 and SRD5A2 may cause abnormal enzymes involved in androgen synthesis. Androgen dysfunction is mainly associated with the AR gene. Clinical manifestations are heterogeneous, including complete gonadal dysgenesis, partial gonadal dysgenesis and testicular degeneration syndrome. Early detection and clearing the etiology are essential for treatment options, prognosis and genetic counseling. Here, the possible causative genes and clinical manifestations are reviewed.%46,XY女性性发育异常(46,XY DSD)是一种罕见的先天性遗传学疾病,根据发生机制主要包括性腺分化发育异常和雄激素合成或功能障碍两方面.其遗传背景复杂,与多种遗传因素相关,性腺分化发育异常与SRY、WT1、SF1、SOX9、DAX-1、DMRT1等基因相关;CYP17A1、SRD5A2等基因突变可引起参与雄激素合成的酶发育异常,从而导致雄激素合成障碍;雄激素功能障碍主要与雄激素受体(AR)基因相关.该病在临床表现有很大的异质性,包括完全性性腺发育不良、部分性性腺发育不良及睾丸退化综合征.早期发现、明确病因对患者的治疗选择、预后和遗传咨询具有重要的意义,本文对引起46,XY DSD的相关基因及临床表现进行综述.
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