With modern treatment and longer survival of patients with homozygous beta-
thalassaemia endocrine dysfunction assumes greater importance. Short statur
e, delayed puberty and hypogonadism are major problems in both adolescent a
nd adult patients. Growth failure has been attributed to GH deficiency (hyp
othalamic or pituitary), hypothyroidism, delayed sexual maturation, hypogon
adism, diabetes mellitus, zinc deficit, low Hb levels, bone disorders and d
esferrioxamine toxicity, The present report concentrates on the incidence o
f short stature among children aged 7-8 years (n = 50) and young adults age
d 20-29 years (n = 93) with blood transfusion dependent homozygous beta-tha
lassaemia appropriately treated who have entered and completed puberty spon
taneously (n = 45) or with treatment (n = 48) and have attained final heigh
t, It also concentrates on the role of GH in the growth retardation of 65 b
lood transfusion dependent thalassaemia major patients, their GH response t
o provocative stimulation, the effect of rhGH therapy on growth and final h
eight in 13 patients who had GH deficiency and the effect of long acting an
drogens on growth and final height of 11 short boys with thalassaemia major
, delayed puberty and normal GH secretion.
Conclusion: 8% of young boys with thalassaemia major aged 7-8 years have sh
ort stature, 12% of the older boys and 15% of the older girls without endoc
rinopathies had height < 3rd percentile, This incidence was 29% when endocr
inopathies were present, GH deficiency is rare among short blood transfusio
n dependent thalassaemia major patients (20%) and seems to play a limited r
ole in the etiology of growth retardation, One year treatment with rhGH imp
roved growth rate and predicted height without causing serious metabolic pr
oblems. Long term administration of rhGH is also safe and promising. Patien
ts with thalassaemia major can achieve acceptable final heights but below t
heir target heights with rhGH therapy, Low dose long acting sex steroid tre
atment in boys with delayed puberty, delayed bone age and without GH defici
ency for a year or more is safe and can produce similar results to those ob
tained with rhGH therapy.