Work

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

Year: 2024

Type: article

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 .

Source: Journal of Clinical and Translational Endocrinology Case Reports

DOI: 10.1016/j.jecr.2024.100181

Authors: Benjamin Rosenstein, Hassan Liaqat, Anees Fazili

Institution: Unity Health System

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,190