Growth and management of short stature in thalassaemia major

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.