TITLE:
Klinefelter Syndrome Diagnosed during the Management of Decompensated Diabetes
AUTHORS:
Mamadou Ba, Nafy Ndiaye, Ngoné Diaba Diack, Jean Pascal Demba Diop, Mouhamed Mbar Niang, Khadidiatou Samb, Sokhna Awa Balla Sall, Yakham Leye, Abdoulaye Leye
KEYWORDS:
Klinefelter Syndrome, Diabetes Mellitus, Senegal, Africa
JOURNAL NAME:
Open Journal of Endocrine and Metabolic Diseases,
Vol.15 No.4,
April
27,
2025
ABSTRACT: Introduction: Klinefelter syndrome brings together all the clinical and hormonal manifestations linked to the presence of a supernumerary X chromosome, giving a classical karyotype of 47, XXY. It is a genetic disease, the leading cause of aneuploidy in humans, making it one of the most common chromosomal diseases. The association with diabetes is rare resulting from multiple pathophysiological mechanisms. Observation: We report the case of a 47-year-old patient with a history of familial diabetes hospitalized for initial decompensation of his diabetes in the ketoacidotic mode who also presented a clinical picture of hypogonadism with a gynoid morphotype, a micropenis, a bilateral gynecomastia, female pubic hair associated with testicular atrophy in a context of couple infertility. The picture suggested Klinefelter syndrome associated with type 2 diabetes confirmed by hormonal (hypergonadotropic hypogondism) and genetic (47XXY karyotype) explorations. Conclusion: Klinefelter syndrome is a common cause of hypogonadism and male infertility. It is often diagnosed late. The association with diabetes is possible under the influence of multiple physiopathological mechanisms. We must think about this syndrome in the face of any hypergonadotropic hypogonadism and have an easy karyotype in this context.