48, XXYY Genotype: Case Report of a Rare Clinical Syndrome
Journal Title: Journal of Endocrinology and Diabetes - Year 2016, Vol 3, Issue 1
Abstract
48, XXYY syndrome is extremely rare with an incidence of 1:18000-1: 100,000 males. Classic Klinefelter Syndrome (KS) with 47, XXY karyotype has well recognized clinical features which includes seminiferous tubule dysgenesis, androgen deficiency, cognitive and behavioral dysfunction, increased risk of autoimmune disorders, thromboembolic disease and cancer. However the clinical features of 48, XXYY syndrome are extremely diverse and more pronounced in comparison to classic KS. With each additional X chromosome there is progressive divergence from the normal with increased frequency of phenotypic, endocrine and structural abnormalities. We describe here the case of a 28-year old male patient, who was diagnosed with classic KS at a very young age of 14, presented with not only behavioral and cognitive impairment but also with a wide spectrum of medical complications. His distinct clinical features led a comprehensive re-evaluation with repeat karyotyping and was identified as XXYY genotype.
Authors and Affiliations
Arsha Sreedhar, Deborah Feden, Gretchen Perilli, Ranjit Nair, Vasudev Magaji
Keywords
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- EP ID EP333363
- DOI 10.15226/2374-6890/3/1/00139
- Views 89
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