ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 66 P79 | DOI: 10.1530/endoabs.66.P79

A case of 17 years old beta thalassaemic boy with polyendocrinopathy secondary to hemosiderosis

Tatyana Moshanova, Ragini Bhake, Amy Webster & James Greening


Leicester Royal Infirmary Hospital, Leicester, UK


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 isn’t 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: 14–15 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.

Auxology
ParametersResultsCentiles
Height150.5 cm<0.4
Weight46 kg<0.4
Investigations
Serum Ferritin10 212 mg/l (23–540)
Follicle stimulating hormone0.6 iu/l (1.0–10.0)
Testosterone level0.4 mmol/l (9.4–37.0)
Sex hormone binding globulin130 nmol/l (15–40)
Luteinising Hormone0.5 iu/l (1–9)
IGF166 mg/l (105–346)
Prolactin44 miu/l (50–400)
Cortisol188 nmol/l (138–620)
17-Beta Oestradiol72 pmol/l (0–130)
HbA1c79 mmol/mol (<42)
GHRH (Somatorelin) L-arginine stimulation test
TimeGH(mg/l)IGF-1(mg/l)Glucose mmol/l
−150.366
00.49.2
301212.1
606.312.4
903.211.4
1201.411.0
1500.5

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