The main-stay management of Beta thalassaemia major is blood transfusion but this carries a risk of endocrinopathy from hemosiderosis in endocrine organs. Iron chelation therapy aims to mitigate this risk. Access to this therapy isnt available in some healthcare systems. Known Syrian refugee diagnosed with Beta thalassaemia major in infancy referred via the refugee medical services for thalassaemia management. There was previous history of intermittent transfusion support and poor chelation therapy management. Pallor, icterus, prominent maxillae, short stature, weight loss and delayed secondary sexual characteristics (A1, P2 G2, 3 ml testes bilaterally) were noted on examination.
MRI abdomen/thorax: hepatic and myocardial iron overload, absent spleen, signal reduction for pancreas and bone marrow. MRI Pituitary: little signal intensity on T1-weighted imaging and no signal intensity on T2-weighted imaging in the anterior lobe. Overall appearance suggestive of pan-hypopituitarism 2nd to haemochromatosis. Bone age X-ray: Guryleich and pyle: 1415 years old. Chronological age is 18 years. Spine bone density 0.691 g/cm2 with Z-score of −4.0 Management: Iron chelation due to severe risk of heart failure: IV Desferal at 60 ml/kg/day 24 h, 7 days/week, Deferiprone 100 mg/kg per day. Endocrine management: Genotropin 1.6 mg (0.035 mg/kg per day) for a year, Testosterone 75 mg, monthly for 6 months. Diabetes management: Degludec and Insulin Aspart, total daily dose 46 Units. A case of Beta thalassaemia major and long-term suboptimal treatment leading to T1DM, partial hypopituitarism (growth hormone deficiency, hypogonadotropic hypogonadism) secondary to hemosiderosis demonstrating endocrine sequelae and subsequent endocrine management ameliorated the comorbidity.
|Serum Ferritin||10 212 mg/l (23540)|
|Follicle stimulating hormone||0.6 iu/l (1.010.0)|
|Testosterone level||0.4 mmol/l (9.437.0)|
|Sex hormone binding globulin||130 nmol/l (1540)|
|Luteinising Hormone||0.5 iu/l (19)|
|IGF1||66 mg/l (105346)|
|Prolactin||44 miu/l (50400)|
|Cortisol||188 nmol/l (138620)|
|17-Beta Oestradiol||72 pmol/l (0130)|
|HbA1c||79 mmol/mol (<42)|
|GHRH (Somatorelin) L-arginine stimulation test|
27 - 29 Nov 2019
British Society for Paediatric Endocrinology and Diabetes