Background: Thalassemia major is an inherited hemoglobin disorder characterized by chronic anemia and iron overload due to transfusion therapy and gastrointestinal absorption. Iron overload causes most of the associated mortality and morbidity and frequently involves the endocrine glands.
Aim: To review the most pertinent literature on the topic.
Methods: One hundred and twenty-three papers were evaluated.
Results: Disproportionate short stature is frequent and becomes more evident at puberty because of the lack of growth spurt. Later on, partial height recovery may occur. Long-term treatment with recombinant human GH seems ineffective to improve final height. Pubertal development is characterized by a clinical spectrum ranging from hypogonadism to a simple delay in starting and developing of puberty. Hormonal replacement is mandatory in cases of absent or arrested puberty. Pancreatic beta-cells function may be impaired during adolescence or later on. Its impairment ranges from hyperinsulinemia, secondary to insulin resistance, with normal glucose tolerance to beta-cells failure with insulin-dependent diabetes mellitus. Primary hypothyroidism may affect thalassemic patients from the second decade of life. The thyroid dysfunction may be reversible (if an intensive chelation therapy regimen is started in the precocious phase), stationary, or slowly progressive. Central hypothyroidism is less common and autoimmune thyroiditis absent.
Conclusion: Despite the improvement of the treatment, the involvement of the endocrine system still burdens the life of these patients. Further therapeutic improvement would reasonably reduce morbidity and, hopefully, mortality of thalassemic patients and make the endocrine disorders easier to treat.