ESPE Abstracts (2018) 89 MTE2.1

Endocrine Complications in Thalassaemia

Nicos Skordis


Paedi Medical Center for Specialized Pediatrics, Nicosia, Cyprus


Multiple transfusions in patients with Thalassaemia Major (TM) result in iron overload, which accumulates in tissues with high levels of transferrin-receptors such liver, heart and endocrine glands The nature and frequency of endocrinopathies differ between countries because of the different levels of treatment followed by centres across the world.

1. Short stature. The child with TM has a particular growth pattern, which is relatively normal until age 9–10 years; after this age a slowing down of growth velocity and a reduced or absent pubertal growth spurt are observed. The origin of growth failure is multifactorial. The origin of growth failure is multifactorial: chronic anemia, hypersplenism, chronic liver disease, skeletal dysplasia, Desferrioxamine toxicity, dysfunction of the GH – IGF 1 axis, hypothyroidism and delayed puberty. Therapeutic response with GH administration in cases with GH deficiency is often non satisfactory.

2. Delayed puberty and hypogonadism. This represents the most common complication, where proper management is crucial not only for self-image but also for the prevention of bone loss. Therapeutic response to sex steroids is excellent.

3. Hypothyroidism. The subclinical type is the most commonly seen form that usually presents after age 10 years.

4. Impaired glucose tolerance/diabetes mellitus. Patients usually present with impaired glucose tolerance, mostly due to insulin resistance and subsequently develop insulin deficiency. Other contributing factors include: liver dysfunction, genetic loading and hormonal treatment.

5. Hypoparathyroidism. This rare complication presents after the age of 16 years equally in both sexes with mild hypocalcaemia and very rarely with tetany and cardiac failure.

6. Adrenal insufficiency. Biochemical adrenal insufficiency varies up to 45%, but clinical adrenal insufficiency is extremely rare.

7. Bone disease. Patients with TM display an unbalanced bone turnover with an increased resorption phase and decreased formation phase, resulting in severe bone loss.

Therapeutic advances have significantly increased the average lifespan and improved the quality of life in patients with TM. Attainment of reproductive capacity and creation of a family has become a great task for both women and men. Early recognition and treatment of endocrinopathies is vital to prevent late complications and increase the chances of parenthood.

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