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Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report.

Journal of pediatric endocrinology & metabolism : JPEM - 17 Dec 2024

Laureano Daniela P, Kirjner Vitória, Ferraro Lethicia C, Carvalho Clarissa G, Leite Julio César L, Hemesath Tatiana P, Costa Eduardo Corrêa, Guaragna-Filho Guilherme, Leistner Sandra

Abstract excerpt

OBJECTIVES: Steroid 5α-reductase type 2 deficiency (5α-RD2) is an autosomal recessive disorder caused by mutations in the SRD5A2 gene. This condition is characterized by reduced enzymatic activity of the 5α-reductase type 2 enzyme. Individuals with mutations in the SRD5A2 gene may exhibit various symptoms of under-masculinization in 46, XY individuals. We conducted a comprehensive analysis of the SRD5A2 gene in a...

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PMID: 39361726
DOI: 10.1515/jpem-2024-0154

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