Hypogonadism in Female Patients with Beta Thalassemia Major

Abstract

Beta thalassemia is the most frequent hemoglobinopathy worldwide. In patients with beta thalassemia major (BTM), the consequence of long-term life-saving transfusions is iron overload in liver, heart and endocrine glands. Hypogonadotropic hypogonadism is the most frequent endocrine complication. Recent progresses in the treatment of BTM dra-matically improved life expectancy and quality of life of these patients, making the con- cern for fertility and pregnancy to gain importance. Therefore, we performed a review of the available data regarding hypogonadism in female patients with BTM. We found that hypogonadotropic hypogonadism is still frequently found in female patients with BTM. Pituitary iron overload seems to be the main factor contributing to hypogonadism occur- rence, although iron-related damage of the ovaries and the genital tract cannot be excluded. The increased oxidative stress observed in BTM patients was hypothesized as a contributor to pituitary-gonadal dysfunction. Hypogonadism has significant consequences on quality of life, final height, bone health and fertility of the patients. Estro- progestative administration is essential in order to minimize consequences, although the best treatment regimen should be carefully weighted in each patient. Although spontane- ous fertility is reduced by the presence of hypogonadism, it seems that ovulation-induc-tion treatment with gonadotropins is effective in achieving pregnancies in majority of patients.