RELATIONSHIP OF ENDOCRINOPATHY TO IRON CHELATION STATUS IN YOUNG-PATIENTS WITH THALASSEMIA MAJOR

Disturbances of growth and development in patients with thalassaemia r eceiving hypertransfusion programmes are well recognised and are most likely to be due to iron overload. The extent of endocrine dysfunction was investigated in a group of 18 patients thought to have been treat ed by acceptable modern standards, 11 of whom could be considered as w ell chelated. Assessment of growth and puberty showed a wide variation in height SD scores with five patients having significantly short sta ture. Most patients are progressing through puberty normally with the exception of two boys with marked pubertal delay. The most prominent f inding was that growth hormone responses to glucagon stimulation were significantly impaired in all of the patients with iron overload. Basa l endocrine assessment showed primary hypothyroidism in two patients a ged 16.8 and 12.9 years with plasma thyroxine-concentrations of 86 and 59 nmol/l (normal range 65-165 nmol/l) and plasma thyroid stimulating hormone 10.2 and 30.3 mU/l (normal range 0.5-5 mU/1). One patient had diabetes mellitus. These results show that even when ideal management is sought a significant amount of endocrine damage occurs; surveillan ce of these patients is thus essential.