Congenital lipoid adrenal hyperplasia with 46, XY karyotype and male external genitalia: Two cases and literature review
10.3760/cma.j.cn311282-20200621-00457
- VernacularTitle: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
- Author:
Xinyi LIANG
1
;
Wei WU
;
Ke HUANG
;
Xuefeng CHEN
;
Jinna YUAN
;
Hu LIN
;
Guanping DONG
Author Information
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
- Keywords:
Congenital lipoid adrenal hyperplasia;
Adrenal insufficiency;
StAR gene;
Male
- From:
Chinese Journal of Endocrinology and Metabolism
2021;37(9):836-839
- CountryChina
- Language:Chinese
-
Abstract:
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.
