Endocrine Studies in a Case of Congenital (Erythroid) Hypoplastic Anaemia

Abstract

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.

Fanconi's aplastic anaemia with short stature. Absence of response to human growth hormone.

“…However, none of their patients had a severe aplastic anaemia of the type recorded here. A patient with congenital hypoplastic anaemia, described by Steel, Butterworth, and Keay (1972), showed evidence of pituitary hypofunction after many transfusions and it was felt that the endocrinological defect was secondary to extensive deposition of haemosiderin within the pituitary gland. Our patient differs in that clear evidence of endocrine dysfunction existed before oral iron therapy and blood transfusion.…”

Fanconi's Anemia Ii.

“…Uremia is known to be associated with increased basic GH levels and consequently cannot be made responsible for the very low GH secretion (15,23). Haemosiderosis as an explanation of endocrine dysfunction cannot be applied to the GH deficient child since the boy had received only a total of 50 ml red cell concentrate (20). Except for the deficient secretion of GH in one child no complete failures of other endocrine functions were observed in this family.…”