先天性肾上腺皮质增生症致单纯男性化女性假两性畸形一例

A case of congenital adrenal hyperplasia resulting in simple masculine female pseudohermaphroditism

先天性肾上腺皮质增生症(CAH)是以肾上腺皮质类固醇激素生成受损为特征的常染色体隐性遗传性疾病。最常见的类型是单纯男性化女性假两性畸形,即具有男性化或发育模糊的外生殖器,但性腺仍为女性生殖腺且染色体核型为46,XX的女性个体,常常由于患者和家属认识不足、重视程度不够、医疗水平受限及不愿就诊的自卑心理导致治疗延误,甚至危及生命。本文回顾性分析了一例2023年5月26日就诊于山西医科大学第二医院的CAH致单纯男性化女性假两性畸形患者的病例资料,并结合相关文献探讨其发病机制及治疗方法,以期提高临床筛查率及人们的重视程度。

Congenital adrenocortical hyperplasia(CAH)is an autosomal recessive disorder characterized by impaired adrenocortical steroid hormone production.The most common type is purely masculine female pseudohermaphroditism,a female individual with masculine or ambiguously developed external genitalia,but with female gonads and a karyotype of 46,XX.Treatment is often delayed or even life-threatening due to a lack of awareness and attention among patients and their families,limited medical care,and low self-esteem with reluctance to seek medical attention.In this paper,a case of simple masculine female pseudohermaphroditism caused by CAH admitted to the Second Hospital of Shanxi Medical University on May 26,2023 was retrospectively analyzed,and its pathogenesis and therapeutic method were discussed in combination with relevant literatures,in order to improve the clinical screening rate and people's attention.