Endocrine Abstracts

A 21-year old male with a 4 year history of tip 1 diabetes mellitus was admitted for diabetic ketoasidosis. The patient was on premixed insulin in two divided of 20 units. He had poor control of diabetes with no regular follow up. His height was 141 cm (3rd persentile), and weight was 36 kg (3rd percentile). These anthropometric findings demonstrated low-height for his age. His bone age was consisted with 16 years. Physical examination revealed moon face, hepatomegaly, short stature. The patient was prepubertal with tanner stage 2 for testicular and pubic hair development. Fundus examination revealed bilateral optic atrophy. Laboratory analysis were as following; Hb: 11.3 g/dl (11–16), hct: 37.7% (37–54), AST: 65 U/lt (50) ALT: 61 U/lt (50), urea: 67.5 mg/dl (17–43) creatinine: 0.72 mg/dl (0.67–1.17), C peptide: 0.01 ng/ml, basal serum cortisol: 18.8 μg/dl, FSH: 0.98 mIU/ml (1.37–19.26) LH: 0.98 mIU/ml (1.24–8.62), PRL: 3.18 ng/ml (2.64–13.13), total testesterone: 0.36 pg/ml (1.75–7.81). Ferritin and iron levels were lower for normal limits. His thyroid profile was within normal limits. Somatomedin-C level was 144 ng/ml (84–376). These findings revealed hypogonadotropic hypogonadism. Scrotal sonography was normal. Urine density was 1015 and mean urine volume was 1500 ml. Diabetes insipidus associated with DIDMOAD syndrome was not obtained. Pituitary MR was normal. The coexistence of growth retardation, pubertal delay, hepatomegaly, elevated transaminase levels, diabetes mellitus and optic atrophy has not been reported, yet. It was the first case of the literature.