The phenotype and genotype characteristics of 41 patients with steroid 5α-reductase type 2 deficiency
10.3760/cma.j.issn.1000-6699.2019.03.008
- VernacularTitle:41例5α-还原酶2型缺陷症患儿临床特点及SRD5A2基因突变分析
- Author:
Pengqiang WEN
1
;
Guobing WANG
;
Zhanling CHEN
;
Zhe SU
;
Lili PAN
;
Bashan ZHANG
Author Information
1. 深圳市儿童医院儿科研究所 518038
- Keywords:
5α-reductase;
SRD5A2;
Targeted gene captured next-generation sequencing;
Micropenis;
Hypospadias
- From:
Chinese Journal of Endocrinology and Metabolism
2019;35(3):226-232
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the cliuical phenotype and the genotype of forty-one patients with steroid 5α-reductase type 2 deficiency.Methods The clinical data were collected including physical examination,medical history,laboratory test,as well as ultrasonic examination.Genomic DNA was extracted from peripheral blood leukocytes.Sanger sequencing and targeted gene captured next-generation sequencing were applied to detect the SRDSA2 gene mutation.Results All the patients are Han nationality and their ages ranged from 4 months to 11 years old.The karyotypes of 41 patients were 46,XY and all SRY genes were detected as positive.There were 26 (63%) patients manifested isolated micropenis,and the rest of fifteen patients were hypospadias associated with microphallus accounting for 37%.There were 39 patients who carried biallelic mutation.Two cases just identified one allele mutation.Sixteen gene mutation types were confirmed.Among them c.725A > G (p.Tyr242Cys),c.694C > G (p.His232Asp),and c.548-9T>G are the novel gene types.The allele frequency of c.680G>A (p.Arg227Gln) is 60% (48/80).Conclusion The primary manifestations of patients with steroid 5α-reductase type 2 deficiency were micropenis or hypospadias accompanied with micropenis.c.680G>A (p.Arg227Gln) is the predominantly mutation type of Chinese patient with steroid 5α-reductase type 2 deficiency.