Congenital (erythroid) hypoplastic anaemia was diagnosed in a newborn male infant whose progress was followed until death at the age of 18 years. He received a total of 456 units of blood and developed obvious transfusion haemosiderosis. He showed total arrest of growth from the age of 9 years and remained sexually infantile. These features are common accompaniments of this haematological disorder. In addition, our patient became severely hypothyroid. Endocrine studies provided limited evidence for an anterior pituitary lesion and at post mortem, the pituitary gland, in common with all the internal organs, was found to contain haemosiderin deposits. The suggestion is made that endocrine features in this condition are secondary to iron overload rather than part of the fundamental disorder. A therapeutic trial of human growth hormone may prove of value in such patients.

Keywords:
Congenital anaemia, Growth hormone, Haemochromatosis, Hypothyroidism, Pituitary hypofunction, Transfusion haemosiderosis
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© 1972 S. Karger AG, Basel
1972
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