Coexistence of <i>SRY, DHX37</i> and <i>POR</i> gene variants in a patient with 46,XY disorder of sex development
Our patient is the first case in which the coexistence of variants in the <i>SRY</i>, <i>DHX37</i> and <i>POR</i> genes was detected. This case suggests that a combined phenotype characterized by DSD and alterations in adrenal function may result from genetic variants in the <i>SRY</i>, <i>DHX37</i> and <i>POR</i> genes involved in gonadal development and synthesis of adrenal hormones.
Authors
- Hakan Döneray (ORCID: https://orcid.org/0000-0002-9774-3649)
- Ayşe Özden (ORCID: https://orcid.org/0000-0002-3625-2387)
- Ayberk Türkyılmaz (ORCID: https://orcid.org/0000-0001-9647-8970)
- Binali Fırıncı (ORCID: https://orcid.org/0000-0002-0852-2458)
Institutions
- Erzurum Regional Training and Research Hospital (TR)
- Atatürk University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2025-03-20
- DOI
- https://doi.org/10.1515/jpem-2024-0554
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00