Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (<i>SRD5A2</i>) gene in a Brazilian patient: case report
This study reveals different phenotypes for the two siblings, highlighting the complexity of establishing a genotype-phenotype correlation in the <i>SRD5A2</i> 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.
Authors
- Sandra Leistner‐Segal (ORCID: https://orcid.org/0000-0003-3792-6168)
- Tatiana Prade Hemesath (ORCID: https://orcid.org/0000-0002-5714-8941)
- Clarissa Gutiérrez Carvalho (ORCID: https://orcid.org/0000-0002-2663-4197)
- Júlio César Loguercio Leite (ORCID: https://orcid.org/0000-0002-3551-6811)
- Daniela Pereira Laureano (ORCID: https://orcid.org/0000-0003-0837-6611)
- Eduardo Corrêa Costa (ORCID: https://orcid.org/0000-0002-5848-3725)
- Guilherme Guaragna‐Filho (ORCID: https://orcid.org/0000-0002-7764-1426)
- Vitória Kirjner
- Lethicia C. Ferraro
Institutions
- Universidade Federal do Rio Grande do Sul (BR)
- Hospital de Clínicas de Porto Alegre (BR)
- Pontifícia Universidade Católica do Rio Grande do Sul (BR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2024-10-03
- DOI
- https://doi.org/10.1515/jpem-2024-0154
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior