Endocrine Abstracts

Introduction: Klinefelter’s syndrome is the most common male chromosomal abnormality. Several metabolic manifestations are observed during this syndrome including diabetes mellitus. We report the case of a patient who presented with inaugural ketosis revealing diabetes secondary to Klinefelter syndrome.

Observation: 38-year-old patient followed for primary infertility for 6 years, alcoholics and smokers who have been weaned for 3 years, two sisters with a T2DM profile. He presented for 3 weeks a polyuro polydipsia syndrome without weight loss, vomiting or abdominal pain, referred after testicular biopsy for hyperglycemia at 4 g/l, glycosuria and acetonuria at 2× and bicarbonates at 25. The clinical examination noted a Klinefelter’s profile, protruding superciliary arches, BMI at 31 kg/m², a pathological waist circumference at 102 cm, bilateral gynecomastia, micropenis and a Tanner stage at G2P4. On work-up: CRP: 6 mg/l; TSH=1.93 µg/ml, cortisol: 120 µg/l; FSH: 36.8 UI/l; LH: 14.9UI/l; Testosterone: 0.08 µg/l; prolactin: 5.19 ng/ml; calcemia: 92 mg/l, Creatinine= 5 mg/l (GFR: 170 ml/mn), CT: 1.96 g/l; TG: 2.92 g/l; HDL: 0.34 g/l; LDL: 1 g/l. HbA1c= 14.8%. Testicular ultrasound showed small testicles. Spermogram: total azoospermia; Karyotype: homogeneous klinefelter 47, XXY. The treatment consisted in the correction of ketosis and then put on Mixtard30 (30-0-18), and Metformin 1000mg in progressive dose. The evolution was favorable with normalization of the glycemic values.

Discussion and Conclusion: In Klinefelter’s syndrome, type 2 diabetes and carbohydrate intolerance are observed, with frequent hyperinsulinism and a peripheral insulin resistance mechanism, the clinical expression of which is a metabolic syndrome. Klinefelter’s syndrome, although rare, is the most frequent male chromosomal abnormality, which is diagnosed late and often at the time of primary infertility. It may be associated with metabolic disorders and particularly diabetes due to insulin resistance observed in Klinefelter.