Short stature in thalassemia major: multiple aetiologies
S Jha1, G Bano1,2 & SN Nussey2
Short stature in thalassemia major: multiple aetiologies.
A 24 year old Asian male with beta-thalassemia major was referred with symptoms of tiredness, weight gain, muscle weakness and depression. He had been treated elsewhere with blood transfusions, desferrioxamine and had undergone a splenectomy. He was known to have underlying cardiac dysfunction and was diagnosed to have hypogonadotrophic hypogonadism at the age of 17 years and primary hypothyroidism at the age of 19 years.
On examination, his height was 1.41m and he was Tanner pubertal stage 3. He had mild gynecomastia and testes were 4 ml bilaterally.
Investigations showed his hemoglobin 7.7g/dl and serum ferritin of 1936ng/ml. Glucagon test showed sub-optimal cortisol and growth hormone responses. IGF-1 levels were low. Bone mineral density (compared with age- but not height-matched normal subjects) showed severe osteoporosis
Beta thalassemia patients are multiply transfused. Short stature is present in 40%. Growth is normal in early childhood but there is deceleration of growth velocity around 9-10 years and final height is reduced in patients with both spontaneous puberty and induced puberty. Growth hormone deficiency is a prominent cause of growth failure. The effects of thalassaemia on the spine are multifactorial and include the disease itself, GH and sex steroid deficiency and desferrioxamine. There is a high incidence of osteoporosis in the spine in both sexes and severity increases with age. Bisphosphonates are effective in treating this but the potential role of PTH needs to be evaluated. Hypogonadism is observed in 38% of females and 67% of male patients. Hypothyroidism is not uncommon and patients tend to develop diabetes, with a mean age at diagnosis of around 17 years. Hypoparathyroidism is a less common complication and adrenal insufficiency appears rare.
We advocate multidisciplinary follow up with early investigation and intervention.