{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T17:54:47Z","timestamp":1740160487421,"version":"3.37.3"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"12","funder":[{"name":"Fundo de Incentivo \u00e0 Pesquisa e Eventos (FIPE) do Hospital de Cl\u00ednicas de Porto Alegre"},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Pr\u00f3-Pesquisa\/PROPESQ\/UFRGS"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0154_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Steroid 5\u03b1-reductase type 2 deficiency (5\u03b1-RD2) is an autosomal recessive disorder caused by mutations in the <jats:italic>SRD5A2<\/jats:italic> gene. This condition is characterized by reduced enzymatic activity of the 5\u03b1-reductase type 2 enzyme. Individuals with mutations in the <jats:italic>SRD5A2<\/jats:italic> gene may exhibit various symptoms of under-masculinization in 46, XY individuals. We conducted a comprehensive analysis of the <jats:italic>SRD5A2<\/jats:italic> gene in a patient with disorder of sex development (DSD).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0154_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We describe a patient with a homozygous Gly183Ser variant in the <jats:italic>SRD5A2<\/jats:italic> 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0154_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study reveals different phenotypes for the two siblings, highlighting the complexity of establishing a genotype-phenotype correlation in the <jats:italic>SRD5A2<\/jats:italic> gene. It is noteworthy that the Gly183Ser variant seems to be more prevalent among individuals of African descent, aligning with our patient\u2019s ethnic background.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0154","type":"journal-article","created":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T17:44:24Z","timestamp":1727977464000},"page":"1091-1095","source":"Crossref","is-referenced-by-count":0,"title":["Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (<i>SRD5A2<\/i>) gene in a Brazilian patient: case report"],"prefix":"10.1515","volume":"37","author":[{"given":"Daniela P.","family":"Laureano","sequence":"first","affiliation":[{"name":"Post Graduation Program of Child and Adolescent Health , 28124 Universidade Federal Do Rio Grande Do Sul , Porto Alegre , Brazil"},{"name":"Genetics Service , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"},{"name":"Disorders of Sexual Development (DSD) Multidisciplinary Team , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vit\u00f3ria","family":"Kirjner","sequence":"additional","affiliation":[{"name":"Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul , Porto Alegre , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lethicia C.","family":"Ferraro","sequence":"additional","affiliation":[{"name":"School of Medicine , 28124 Universidade Federal do Rio Grande do Sul (UFRGS) , Porto Alegre , RS , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2663-4197","authenticated-orcid":false,"given":"Clarissa G.","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine , 28124 Universidade Federal do Rio Grande do Sul (UFRGS) , Porto Alegre , RS , Brazil"},{"name":"Post Graduation Program of Child and Adolescent Health , 28124 Universidade Federal Do Rio Grande Do Sul , Porto Alegre , Brazil"},{"name":"Disorders of Sexual Development (DSD) Multidisciplinary Team , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julio C\u00e9sar L.","family":"Leite","sequence":"additional","affiliation":[{"name":"Genetics Service , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"},{"name":"Disorders of Sexual Development (DSD) Multidisciplinary Team , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana P.","family":"Hemesath","sequence":"additional","affiliation":[{"name":"Disorders of Sexual Development (DSD) Multidisciplinary Team , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo Corr\u00eaa","family":"Costa","sequence":"additional","affiliation":[{"name":"Disorders of Sexual Development (DSD) Multidisciplinary Team , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7764-1426","authenticated-orcid":false,"given":"Guilherme","family":"Guaragna-Filho","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine , 28124 Universidade Federal do Rio Grande do Sul (UFRGS) , Porto Alegre , RS , Brazil"},{"name":"Post Graduation Program of Child and Adolescent Health , 28124 Universidade Federal Do Rio Grande Do Sul , Porto Alegre , Brazil"},{"name":"Disorders of Sexual Development (DSD) Multidisciplinary Team , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3792-6168","authenticated-orcid":false,"given":"Sandra","family":"Leistner","sequence":"additional","affiliation":[{"name":"Post Graduation Program of Child and Adolescent Health , 28124 Universidade Federal Do Rio Grande Do Sul , Porto Alegre , Brazil"},{"name":"Genetics Service , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"},{"name":"Disorders of Sexual Development (DSD) Multidisciplinary Team , Hospital de Cl\u00ednicas , Porto Alegre , Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,10,4]]},"reference":[{"key":"2024120212042474420_j_jpem-2024-0154_ref_001","doi-asserted-by":"crossref","unstructured":"Mendonca, BB, Batista, RL, Domenice, S, Costa, EM, Arnhold, IJ, Russell, DW, et al.. 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