Endocrine Abstracts

Introduction: Klinefelter syndrome (KS) is the most common chromosomal disorder characterized by clinical features of hypogonadism and infertility. Portal vein aneurysms are very rare clinic findings. Reported cases are increasing due to use of modern imaging techniques in clinic practise.

Case report: 19-year-old man was admitted to our hospital with complaints of abdominal pain, nausea, and vomiting associated with eating. He was recently diagnosed with KS by chromosomal analysis, which was performed because of eunucoid appearance and gynecomastia. On physical examination, lungs were clear and heart beats were regular. No abdominal tenderness was found and no enlarged liver or spleen was palpated. Laboratory studies revealed: white blood cell counts, 6.600 mm³; haemoglobin, 14.6 g/dl; AST, 18 U/l, ALT, 9 U/l; GGT 20 U/l; ALP 111 U/L; amylase 40 U/l; total bilirubin 1.47 mg/dl; FSH 52.62 mIU/ml; LH 23.11 mIU/ml; total testosterone 3.28 ng/ml; oestradiol 21.59 pg/ml. An abdominal ultrasound scan showed 23 mm anechoic, saccular expansion in the left branch of portal vein. There were no features of thrombosis, portal hypertension, chronic liver disease, pancreatic mass or pancreatitis. No aneurysmal change was noted in arterial tree and there were no pathological findings in other intraabdominal organs. Monophasic, turbulent venous flow was detected in aneurysmal dilatation by Doppler ultrasonography. Esophagogastroduodenoscopy was performed and revealed pangastritis. Abdominal pain was attributed to gastritis.

Conclusion: Portal vein aneurysms are rare presences and are usually asymptomatic. Portal vein thrombosis is a severe complication of PVA and can result in intestinal ischemia or intestinal infarction. Early diagnosis and initiation of therapy is important. It is well known that KS is associated with an increased risk of venous thrombosis include portal vein thrombosis. So, it is important to follow up the patient for the risk of portal vein thrombosis. For asymptomatic patients regular clinic follow-up will be sufficient.