Congenital hypoplastic anemia (Diamond-Blakfan Syndrom) is genetically determined disorder which is manifested in early childhood with selective deficiency of erythrocyte line in bone marrow. Severe anemia usually appears between 2nd and 6th month of life. Survival depends on blood transfusions, which in consequence lead to hemosiderosis. Hypopituitarism, hypogonadism and diabetes mellitus and other endocrinopathies are the complications of hemochromatosis.
15 years old girl, born from 7th pregnancy at term with 10 points in Apgar scale, body weight 3000 g, length 52 cm. Her parents and siblings are healthy. Hipoplastic anemia was diagnosed at the age of 3 months. She received multiple erythrocyte mass transfusions and Desferal periodically. Hemosiderosis appeared as a consequence. Additionally she was infected with Hepatitis C Virus.
At the time of her admission to our Department physical examination revealed: body weight 25 kg (<<3c.), height 121 cm (<<3c.), her skin was grey-brown, dry and cold, brown teeth enamel, heart rate 60/min, blood pressure 100/50, hepatosplenomegaly, absence of puberty symptoms.
Preliminary hormonal diagnostic revealed primary hypothyroidism (TSH>75.0 uIU/ml, fT4<0.2 ng/dl, fT3 1.0 pg/ml) and hypoparathyroidism (PTH 8,3 pg/ml, hypocalcemia, hyperphosphatemia, bone deficiency). Therapy was introduced: L-thyroxin, calcium carbonicum, 1.25(OH)2D vitamin. After euthyreosis was established the function of hypophysis was evaluated. The dynamic tests revealed somatothropic and gonadothropic hypopituitarism. The patients was positively qualified to growth hormone therapy.
The case of our patient justifies the need of endocrinological evaluation of patients with hemochromatosis.
01 - 05 Apr 2006
European Society of Endocrinology