Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.

ABSTRACT:

Background

Patients with steroid 5α-reductase 2 deficiency (5α-RD) caused by SRD5A2 (OMIM #607306) variants present variable genotypes and phenotypes. The genotype-phenotype correlations remain unclear.

Methods

We investigated genotype-phenotype correlations of SRD5A2 variants in a large Chinese single-center cohort. Phenotypes were categorized using the external masculinization score (EMS), urethral meatus and gonad position, and penile length-standard deviation score.

Results

Of the 130 included patients, 113 had hypospadias, and 17 had a normal urethral meatus position. Testosterone/dihydrotestosterone (T/DHT) values were not significantly associated with phenotypic severity (p = 0.539-0.989). Of the 31 SRD5A2 variants, including 10 novel variants, p.R227Q was the

SUBMITTER: Fan L 

PROVIDER: S-EPMC7549558 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature