Introduction Hypospadias is an abnormal development of the urethral, ventral skin and
corporeal bodies. Urethral meatus and ventral curvature have been historically the …

The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the SRD5A2 gene
mutation varies, and although there have been many attempts, the genotype-phenotype …

Introduction Hypospadias is an abnormal formation of the urethra, ventral skin, and corporal
bodies. Location of the urethral meatus has historically been the phenotypic landmark that …

Purpose 46, XY disorders of sex development (46, XY DSD) are characterized by
incomplete masculinization of genitalia with reduced androgenization. Accurate clinical …

Background: The 5α-reductase type 2 deficiency (5α-RD2) is a specific form of disorder of
sexual development (DSD). Pathogenic variants in the SRD5A2 gene, which encodes this …

The development of embryonic external genitalia (eExG) into characteristic male structures,
such as urethra and penile erectile tissues, depends on 5α-dihydrotestosterone (DHT) …

Importance: Children with 5-alpha-reductase deficiency (5α-RD) and hypospadias present
with micropenis, which makes it difficult to obtain sufficient tissue for urethral reconstruction …

Objective The 5α-reductase type 2 deficiency is mainly caused by mutations in the SRD5A2
gene. Our study aims to investigate the SRD5A2 gene mutations and their corresponding …

Interventions: During subsequent in vitro fertilization, preimplantation genetic testing was
performed on 9 embryos. One unaffected embryo was transferred, resulting in a singleton …

Abstract Objective 5α-Reductase type 2 (5α-RD2) deficiency causes variable degrees of
undervirilization in patients. The correlation between its genotype and phenotype is unclear …