A case report of hypogonadism and infertility in 46,XX (SRY positive) male syndrome

Authors

Benjamin Rosenstein, Rochester Regional Health
Hassan Liaqat, Rochester Regional HealthFollow
Anees Fazili, Rochester Regional HealthFollow

Department

Medicine

Document Type

Article

Publication Title

Journal of Clinical and Translational Endocrinology: Case Reports

Abstract

46, XX Male Syndrome is a rare genetic condition in which an individual has a male phenotype despite having a 46, XX karyotype. This is most often due to a translocation of the SRY gene from the short arm of the Y-chromosome onto the X chromosomes during paternal meiosis. Due to the absence of the long arm of the Y-chromosome, there is a de facto deletion of AZF regions a-c, and this results in infertility. We present a case of a 35-year-old male who was diagnosed with 46,XX (SRY+) Male Syndrome upon work-up for infertility and hypogonadism.

First Page

100181

DOI

10.1016/j.jecr.2024.100181

Volume

35

Publication Date

3-1-2025

Recommended Citation

Rosenstein, B., Liaqat, H., & Fazili, A. (2025). A case report of hypogonadism and infertility in 46,XX (SRY positive) male syndrome. Journal of Clinical and Translational Endocrinology: Case Reports, 35, 100181. https://doi.org/10.1016/j.jecr.2024.100181