Phenotype and genotype analysis of 6 patients with 21-hydroxylase deficiency
10.3760/cma.j.cn114798-20220317-00191
- VernacularTitle:21-羟化酶缺陷症患者6例临床表型与基因型分析
- Author:
Yanying GUO
1
;
Yuan CHEN
;
Hongli ZHAO
;
Xinling WANG
Author Information
1. 新疆维吾尔自治区人民医院内分泌与代谢病科 新疆糖尿病临床医学中心，乌鲁木齐 830001
- Keywords:
Adrenal hyperplasia,congenital;
Steroid 21-hydroxylase deficiency;
Metabolism, inborn errors;
CYP21A2 gene
- From:
Chinese Journal of General Practitioners
2022;21(8):747-750
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of 6 patients with 21-hydroxylase deficiency(21-OHD) diagnosed in The People′s Hospital of Xinjiang Uygur Autonomous Region from 2015 to 2020 were retrospectively analyzed. There were 2 male cases manifesting shorter height, high progesterone level and infertility. And 4 cases were females, manifesting primary amenorrhea, heterosexual precocious puberty, fatigue during emergency, decreased physical strength, dark skin, clitoral hypertrophy and vulva fusion. None of the parents had a history of consanguinity. All but one patient received glucocorticoid replacement therapy. The sequencing of exons and introns of 21CYPA2 gene showed tuat 1 case was homozygous mutation and 5 cases were complex heterozygous mutation. In terms of clinical phenotype, 1 case was non-classical (complex heterozygous mutation) and 5 cases were simple virilizing phenotype.
