Abstract
A 33-year-old man was referred to us with complaints of anorexia, fever and left back pain.He had a past history of recurrent episodes of abdominal pain with diabetes mellitus and hyperlipidemia. His mother was obese and his father was treated for hypertriglyceridemia complicating diabetes mellitus.
Physical examinations revealed gynecomastia, obesity and small firm testes. Laboratory findings were microscopic hematuria with leucocytosis, and marked hyperglycemia with FBS over 300mg/dl associated with high levels of Hb-A1C, cholesterol, triglyceride, LDL, VLDL, chylomicrons and low HDL-cholesterol. Serum and urinary amylase pancreatic type levels were also more than double the upper normal limit during the clinical course.Radiological findings were compatible with acute pancreatitis and there was associated hyperchylomicronemia probably induced by urinary tract infection secondary to poor control of his diabetes mellitus.Endocrinological examination revealed low peripheral levels of testosterone and its metabolites, high basal levels of LH and FSH and hyper-response to LH-RH stimulation.Chromosome analysis showed mosaicism with a 46, XX/47, XXY karyotype.Testicular biopsy revealed nodularly proliferated Leydig cells and marked atrophy of the seminal tubulus.Blood sugar and lipid were controlled and the urinary tract infection improved with insulin and antibiotics.
This is the first case of Klinefelter's syndrome associated with diabetes mellitus and hyperlipidemic crisis. The relationship between the syndrome and the association with marked hyperlipidemia, diabetes mellitus and recurrent acute pancreatitis in this patient is discussed.
