When patient was an 14-year-old, he presented with a short stature and underdeveloped external genitalia. The patient had not undergone normal pubertal development. Hormonal studies and clinical examination revealed the findings of anterior and posterior pituitary hormone deficiency: ADH, LH (0.2 mIU/l), FSH (1.22 mIU/l). Since then patient took different therapy for diabetes insipidus. Secondary sexual characters developed during patient received gonadotropin for a very short time for hypogonadism. Some involution in development showed after patient stopped receiving gonadotropin. Nowadays, patient came to medical attention with complaints about fatigue, mood lowering and complete sex appetence absence. Clinical examination revealed a sick-looking, pale and dehydrated middle-aged man with decreased muscle mass. His face looked like kewpie doll (fine, childrens facial features). And the same time he looks elder: his skin is thinned, with fine wrinkles (geroderma). Patient had absolutely no hair in the groin area, armpit and on the chin. Testicular dimensions was 1.7×0.8 cm (left one) and 1.7×0.7 cm (right one) by the results of ultrasound. Owing to low cortisol, GH and IGF1 pituitary provocative test with insulin was performed, secondary adrenal insufficiency and GH deficiency was shown: ACTH 48.6 pmol/l (>150), cortisol 116 nmol/l (>550), GH not exceeding 0.11 ng/ml. MRI with contrast showed: pituitary volume is 0.01 cm3 (0.150.51 cm3) structure is homogeneous, no signs of structural alterations and space-occupying lesions was shown. Patient denies any head trauma/surgery in past. Owing to clinical signs we considered deficiency PROP1 or PIT1 factors. This analysis was performed, results are processing. The following therapy has been recommended: hydrocortisone 15 mg/day, L-thyroxine 125 μg/day, Desmopressin 0.5 mg/day, Nebido 4 ml i.m. once in 3 months, Somatropin 715 Units s.c. daily.
30 Apr - 04 May 2011
European Society of Endocrinology