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

Benjamin Rosenstein, Hassan Liaqat, Anees Fazili
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引用次数: 0

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.
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来源期刊
Journal of Clinical and Translational Endocrinology: Case Reports
Journal of Clinical and Translational Endocrinology: Case Reports Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
1.10
自引率
0.00%
发文量
32
审稿时长
27 weeks
期刊介绍: The journal publishes case reports in a variety of disciplines in endocrinology, including diabetes, metabolic bone disease and osteoporosis, thyroid disease, pituitary and lipid disorders. Journal of Clinical & Translational Endocrinology Case Reports is an open access publication.
期刊最新文献
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