染色体46,XY外生殖器男性化的先天性类脂质性肾上腺皮质增生症二例并文献复习  

Congenital lipoid adrenal hyperplasia with 46, XY karyotype and male external genitalia: Two cases and literature review

作　　者：梁心怿[1] 吴蔚[1] 黄轲[1] 陈雪峰[1] 袁金娜[1] 林胡[1] 董关萍[1] Liang Xinyi;Wu Wei;Huang Ke;Chen Xuefeng;Yuan Jinna;Lin Hu;Dong Guanping(Department of Endocrinology,the Children′s Hospital of Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院内分泌科,国家儿童健康与疾病临床医学研究中心,杭州310052

出　　处：《中华内分泌代谢杂志》2021年第9期836-839,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：先天性类脂质性肾上腺皮质增生症(CLAH)是一种罕见的遗传病,常表现为肾上腺皮质功能低下及男性女性化表型等一系列临床症状。本研究报道2例46,XY外生殖器男性化的CLAH患儿,总结其临床表现及遗传学特点,并复习国内外文献,以提高对该病的认识。Congenital lipoid adrenal hyperplasia(CLAH)is a rare autosomal recessive disorder,which is characterized by adrenal insufficiency and 46,XY sex reversal.Two cases of CLAH with 46,XY karyotype exhibited male external genitalia were reported to explore the clinical and genetic features.A retrospective analysis of CLAH with relevant literatures was performed.

关 键 词：先天性类脂质性肾上腺皮质增生症 肾上腺功能减退 StAR基因 男性 

分 类 号：R725.8[医药卫生—儿科]