Endocrine Abstracts

A 22-year-old man presented to the Endocrinology unit for short stature. His height is 1.53 cm; weight is 38.5 kg. Physical examination revealed short stature, lean body mass, low-set ears and a short fifth finger on the right. His bone age were consistent with 19-year. He had a history of undescended testis operation at 5-year old and history of strabismus surgery at 14-year old. He had a delta f 508 heterozygote mutation with normal sweat test. His biochemical analysis except total and direct bilirubin, thyroid hormone levels were within normal limit. Thrombocytopenia was occurred in the analysis of complete blood count. Platelet count was 113 000/ml. Basal cortisol level was obtained as 455 nmol/l. Serum FSH and LH levels were found to be increased. The FSH level was 38.4 mIU/ml (1.5–12.4) and the LH level was 15.37 mIU/ml (1.7–8.6). The serum level of somatomedin-C level was within normal limit for age. A sperm analyses revealed azoosspermia with 3 cc amount of semen, 3–4 leukocyte and 8.2 pH. He had normal thyroid and whole abdomen ultrasonographic findings. His scrotal imaging was as follows; right testis was not visible due to operation, left testis parenchyma was heterogeneous and size was 32×14×34 mm with no mass imaging. The serum level of total testosterone was obtained as 5.34 ng/ml (2.49–8.36) within normal limit. His ECG findings revealed a sinus bradycardia and incomplete right bundle branch block. Floppy mitral valve within 67% ejection fraction was observed in echocardiographic evaluation. Osteoporosis was obtained in bone mineral density measured by dual-energy X-ray absorptiometry. Injectable testosterone esters were given. After 1 month of testosterone therapy, the FSH level was decreased to 30.47 mIU/ml and the LH level was decreased to 10.23 mIU/ml and the testosterone level was 5.65.