ARTICLE TYPE : CASE SERIES
Published on : 10 Jan 2026, Volume - 1
Journal Title : WebLog Journal of Endocrinology and Diabetes | WebLog J Endocrinol Diabetes
Source URL:
https://weblogoa.com/articles/wjed.2026.a1001
Permanent Identifier (DOI) :
https://doi.org/10.5281/zenodo.18287818
Turner Syndrome and the SRY Gene: Report of Two Cases
2Department of Dermatology, Mohammed VI University Hospital, Agadir, Morocco
Abstract
Turner syndrome (TS) is a rare chromosomal disorder characterized by partial or complete monosomy X. The presence of Y chromosome material, particularly the sex-determining region Y(SRY) gene, has important clinical implications due to the increased risk of gonadoblastoma. We report two cases of young women with Turner syndrome harboring Y chromosome material detected by fluorescence in situ hybridization (FISH), illustrating the phenotypic variability, diagnostic challenges, and therapeutic management, particularly regarding prophylactic gonadectomy.
Keywords: Turner Syndrome; SRY Gene; Y Chromosome; Gonadoblastoma; Prophylactic Gonadectomy; Disorders of Sex Development
Citation
Gorgi K, Chaouche M. Turner Syndrome and the SRY Gene: Report of Two Cases. WebLog J Endocrinol Diabetes. wjed.2026.a1001. https://doi.org/10.5281/zenodo.18287818