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

Autor:	Laureano DP; Post Graduation Program of Child and Adolescent Health, 28124 Universidade Federal Do Rio Grande Do Sul , Porto Alegre, Brazil.; Genetics Service, Hospital de Clínicas, Porto Alegre, Brazil.; Disorders of Sexual Development (DSD) Multidisciplinary Team, Hospital de Clínicas, Porto Alegre, Brazil., Kirjner V; Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Brazil., Ferraro LC; School of Medicine, 28124 Universidade Federal do Rio Grande do Sul (UFRGS) , Porto Alegre, RS, Brazil., Carvalho CG; Department of Pediatrics, School of Medicine, 28124 Universidade Federal do Rio Grande do Sul (UFRGS) , Porto Alegre, RS, Brazil.; Post Graduation Program of Child and Adolescent Health, 28124 Universidade Federal Do Rio Grande Do Sul , Porto Alegre, Brazil.; Disorders of Sexual Development (DSD) Multidisciplinary Team, Hospital de Clínicas, Porto Alegre, Brazil., Leite JCL; Genetics Service, Hospital de Clínicas, Porto Alegre, Brazil.; Disorders of Sexual Development (DSD) Multidisciplinary Team, Hospital de Clínicas, Porto Alegre, Brazil., Hemesath TP; Disorders of Sexual Development (DSD) Multidisciplinary Team, Hospital de Clínicas, Porto Alegre, Brazil., Costa EC; Disorders of Sexual Development (DSD) Multidisciplinary Team, Hospital de Clínicas, Porto Alegre, Brazil., Guaragna-Filho G; Department of Pediatrics, School of Medicine, 28124 Universidade Federal do Rio Grande do Sul (UFRGS) , Porto Alegre, RS, Brazil.; Post Graduation Program of Child and Adolescent Health, 28124 Universidade Federal Do Rio Grande Do Sul , Porto Alegre, Brazil.; Disorders of Sexual Development (DSD) Multidisciplinary Team, Hospital de Clínicas, Porto Alegre, Brazil., Leistner S; Post Graduation Program of Child and Adolescent Health, 28124 Universidade Federal Do Rio Grande Do Sul , Porto Alegre, Brazil.; Genetics Service, Hospital de Clínicas, Porto Alegre, Brazil.; Disorders of Sexual Development (DSD) Multidisciplinary Team, Hospital de Clínicas, Porto Alegre, Brazil.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Oct 04; Vol. 37 (12), pp. 1091-1095. Date of Electronic Publication: 2024 Oct 04 (Print Publication: 2024).
DOI:	10.1515/jpem-2024-0154
Abstrakt:	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 patient with disorder of sex development (DSD). Case Presentation: We describe a patient with a homozygous Gly183Ser variant in the SRD5A2 gene. Their sibling also carries this variant in homozygosity, while both parents have it in a heterozygous state. The patient presents with predominantly female traits and was raised as a girl. Although the siblings exhibit distinct phenotypic characteristics, both have assumed a male gender identity. Conclusions: This study reveals different phenotypes for the two siblings, highlighting the complexity of establishing a genotype-phenotype correlation in the SRD5A2 gene. It is noteworthy that the Gly183Ser variant seems to be more prevalent among individuals of African descent, aligning with our patient's ethnic background. (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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