ECE2021 Audio Eposter Presentations Diabetes, Obesity, Metabolism and Nutrition (223 abstracts)
Type 1 diabetes and Klinfelter syndrome: A case report
Ajili Rihab , Yosra Hasni , Ben Abdelkarim Asma , Saad Ghada , Kacem Maha , Maaroufi Amal , Chaieb Molka & Ach Koussay
Farhat Hached Sousse, Endocrinology, Tunisia
Introduction
Klinfelter syndrome (SK) is the most common sex chromosome disorder. Affected males carry an additional × chromosome, which results in male hypogonadism, obesity and an insulin resistance field explaining the frequent association of KS and type 2 diabetes. However, cases of type 1 diabetes (T1D) in KS are rarely reported in the literature. We report a case.
Observation
This is a 31-year-old patient admitted with newly discovered diabetes associated with weight loss. The diagnosis of autoimmune T1D was made based on positive T1D antibodies and the patient was put on insulin. The examination objectified a skinny man with tall stature, small testes and gynecomastia. Hypogonadism was suspected due to the absence of secondary sexual characteristics with a Tanner at G1P2A1. Hormonal assays confirmed hypergonadotropic hypogonadism. SK was then evoked clinically and confirmed by a karyotype showing a chromosomal mosaic 47, XXY/46, XX.
Discussion and conclusion
The association of T1D and KS is still unclear, but studies suggest that patients with KS have a higher susceptibility to autoimmune diseases. This is because low levels of testosterone and high estrogen in KS may predispose hypogonadal males to develop defects in T cell activity that lead to autoimmune disorders, in particular destruction of Langerhans β cells.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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