Abstract
Background: It has not been clarified why diabetes mellitus develops in patients with Klinefelter’s syndrome. However the association between both diseases is frequent. Clinical Case: A 31-years-old man with type 2 diabetes diagnosed 2 months ago who received metformin for treatment. He presented to the hospital with dysuria, polyuria, polydipsia, weight loss, hyporexia, vomiting and drowsiness. On examination: BP: 110/60 mmHg, HR: 108 lp, FR: 24 rp, T °: 37 ° C, BMI: 31.4 kg / m2, oral mucosa dry, bilateral gynecomastia, subcutaneous cellular tissue of gynecoid distribution. His body hair was thin. His penis was small and both testicles were prepubertal. Laboratory: Glucose: 410 mg / dl; HbA1c 15.2%; creatinine: 1.01 mg / dl; arterial gases: pH 7.14 pCO2: 20, HCO3: 6.6, AG: 29. Normal electrolytes. Ketonuria: 3+. We concluded: diabetic ketoacidosis. In addition, FSH 61.18 μU / ml (RR: 1.5-12.5); LH: 28.47 μU / ml (RR: 0.7-8.6); Total testosterone: 0.41 ng / ml (RR: 2.8-8), compatible with hypergonadotropic hypogonadism. Therefore a karyotype is requested in peripheral blood, resulting in 47, XXY in 20 metaphases analyzed. Klinefelter’s syndrome was diagnosed from his physical characteristics, hormonal findings and his chromosomal aberration. He received testosterone undecanoate every 4 weeks, NPH insulin 12 IU / 8UI plus metformin 850 mg every 12 hours. Three months later: baseline glucose 89 mg / dl and HbA1C of 9.5%. Conclusion: We present the case of a young male with diabetic ketoacidosis and hypogonadism, secondary to Klinefelter syndrome. Klinefelter syndrome is associated with Diabetes mellitus with a RR that varies from 1.64 to 7.06 according to current literature. In addition, we highlight the importance of the medical history and physical examination for an adequate diagnosis of rare conditions such as Klinefelter Syndrome. Reference: 1. Kanakis GA, Nieschlag E. Klinefelter syndrome: more than hypogonadism. Metabolism. Septembere 2018;86:135-44.