Endocrine Abstracts

Introduction: The predominant management of beta-thalassemia major is repeated blood transfusions but this runs the risk of haemosiderosis leading to multiple endocrinopathies. Iron chelation therapy can reduce this risk, however universal access is poor.

Case Presentation: An 18 year old male with “type 1 diabetes” was referred to Young Adult Diabetes Clinic having arrived to the UK from Syria 10 days previously. The only past medical history of note was transfusion dependent beta-thalassaemia major and consequent splenectomy. He was a non-smoker and no family history of diabetes. The initial clinician noticed his biological age did not match his chronological age owing to minimal signs of pubertal changes including hair growth. Pubertal assessment: axillary hair stage 1, pubic hair stage 2, genitals stage 2 to 3 with 3 ml testes on both sides. Height: 150.5 cm (<0.4 Centile), weight 46 kg (<0.4 Centile). Bone age was 14-15 on x-ray. He also had frontal bossing suggesting extramedullary haematopoesis and bronze skin pigmentation. His diabetes was actually secondary to pancreatic iron deposition.

Initial Investigations A GHRH-arginine test showed growth hormone deficiency. He also had hypogonadotrophic hypogonadism. MRI identified iron overload in the heart and liver; MRI pituitary showed loss of signal intensity in anterior pituitary suggestive of hypopituitarism secondary to iron overload.ProgressHe was started on growth hormone initially 1.2 mg/day and then testosterone starting at 75 mg a month titrating to 250 mg. He gained 19 cm over four years with final height of 169 cm (15th centile). Testes grew to 10mm bilaterally with axillary, pubic and facial hair development. Iron chelation lowered ferritin to the reference range. Now aged 22 continues on growth hormone and testosterone replacement therapy.ConclusionDelayed puberty may present later in patients with limited access to healthcare. Replacement of the underlying hormonal deficits can help achieve adult height and development of secondary sexual characteristics. Late treatment even into the early 20s may help achieve close to predicted adult height. Iron chelation will help prevent further deterioration in soft tissue damage but will not reverse damage to the pituitary.