Outcomes of late endocrinologic evaluation in adult patients with thalassemia major: case series

Abstract

AThalassemia is a group of inherited disorders characterized by the reduced or absent synthesis of the globin chains that make up hemoglobin. Transfusion-dependent thalassemia (TDT) is the most severe form, which requires lifelong transfusion. Complications related to the heart, liver and endocrine glands caused by the accumulation of excess iron in different organs due to transfusions are seen in adult patients. Of these complications, endocrine gland complications are widespread in adult patients. Hypogonadism is the most commonly reported endocrine complication, which affects 70-80% of thalassemia major patients. In this case series, we will present three female patients, aged 37, 18 and 27, who were followed up with the diagnosis of TDT and who underwent endocrinological evaluation in adulthood. We aim to emphasize that the diagnosis of hypogonadotropic hypogonadism and growth hormone (GH) deficiency was made late because the endocrinological evaluation of these patients was performed at an adult age, and we discussed the consequences of this. The survival of TDT patients has improved significantly in the last decade due to the introduction of transfusion, oral iron chelation therapies, and bone marrow transplantation, and these patients live into adulthood. Therefore, endocrinologic evaluation should be performed in pre-pubertal and pubertal periods. Early recognition of endocrine complications and early initiation of treatment are important to prevent irreversible sequelae.