先天性肾上腺皮质增生症伴肾上腺残余肿瘤的临床及研究进展

Clinical and research progress of congenital adrenal hyperplasia with adrenal rest tumor

肾上腺残余肿瘤(ART)是一种并发于先天性肾上腺皮质增生症(CAH)的良性肿瘤,可发生于任何年龄阶段,尤其是进入青春期和成年之后。男性多发生在睾丸,被称为睾丸肾上腺残余肿瘤(TART),女性可发生在卵巢和卵巢旁组织,被称为卵巢肾上腺残余肿瘤(OART)。ART是导致成年CAH患者生育功能障碍的主要原因之一,为避免造成不可逆的性腺功能损害,早期预防及诊治是关键。既往对儿童TART报道较多,而成人TART和OART临床资料较少。本文结合目前最新的基础及临床证据,对CAH合并ART的流行病学,肿瘤细胞来源和发病机制,临床诊疗、防治和预后问题作一综述。旨在通过对CAH合并ART的深入理解,更好地指导临床工作。

Adrenal rest tumor (ART) is a well-known complication in congenital adrenal hyperplasia (CAH), which may occur in all age groups, especially in adolescence and adulthood. Tumors that occur in the testicular known as testicularadrenal rest tumor (TART), in the ovarian and parovarian tissue known as ovarian adrenal rest tumor (OART). ART is one of the major causes of reproductive dysfunction in adult with CAH. Early prevention and treatment is the key to avoid irreversible damage to gonadal function. In the past, we paid more attention to TART in children, while ignored TART and OART in adults. This article will review the origin of tumor cells, pathogenesis, epidemiology, diagnosis, treatment and prognosis of CAH associated with ART, which aims to guide clinical work through the profound understanding of CAH with ART.