A case of atypical cholesterol side chain defect possibly caused by CYP11A1 heterozygous mutation
10.3760/cma.j.issn.1000-6699.2019.02.014
- VernacularTitle:一例可能与 CYP11A1杂合突变有关的非典型胆固醇侧链酶缺陷症
- Author:
Xiao KUANG
1
;
Honghui WANG
;
Nan HU
;
Hongxian WANG
;
Huixiang YANG
;
Minxiang LEI
;
Lijuan GUO
Author Information
1. 中南大学湘雅医院老年医学呼吸内科
- Keywords:
CYP11A1;
Congenital Adrenal Hyperplasia;
Atypical Cholesterol Side Chain Enzyme Deficiency
- From:
Chinese Journal of Endocrinology and Metabolism
2019;35(2):161-164
- CountryChina
- Language:Chinese
-
Abstract:
This paper reports a case of atypical cholesterol side chain enzyme deficiency caused possibly by CYP11A1p.A359V heterozygous mutation. The patient was diagnosed as congenital adrenal hyperplasia because he was born with gonadal dysplasia and there were manifestations of salt losing and pigment changing, combined with high level of plasma ACTH. Further genetic screening revealed CYP11A1p.A359V heterozygous mutations in patients with a final diagnosis of cholesterol side chain enzyme deficiency which was treated effectively to glucocorticoid.
