Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects

• Published in: PloS one Vol. 20; no. 3; p. e0316497
• Main Author: Ramos, Luis
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 05.03.2025; Public Library of Science (PLoS)
• Subjects: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics; Biology and Life Sciences; Causes of; Child; Child, Preschool; Computer and Information Sciences; Disorder of Sex Development, 46,XY - genetics; DNA sequencing; Engineering and Technology; Enzymes; Female; Gene amplification; Gene frequency; Genes; Genetic aspects; Genetic disorders; Genetic screening; Genetic variability; Genitalia; Hereditary diseases; Humans; Laboratories; Male; Medical research; Medicine and Health Sciences; Medicine, Experimental; Membrane Proteins - genetics; Methods; Mutagenesis; Mutation; Nucleotide sequencing; Nucleotides; Pathogenicity; Physical Sciences; Polymerase chain reaction; Polymorphism, Single Nucleotide; Population genetics; Prostate; Pseudohermaphroditism; Questions and answers; Reductases; Reproductive organs; Research and Analysis Methods; Sex differentiation disorders; Steroid 5α-reductase; Steroid hormones; Steroids; Thermal cycling; United States; Mexico; United States > US

SRD5A2 gene variants are associated with deficiency of steroid 5α-reductase type 2, which is an autosomal recessive disorder of sex development (DSD) present in 46,XY males with ambiguous genitalia. To determine the causality of the disorder, this study involved genetic screening of SRD5A2 in six un...