cross-sectional controlled study of gonadal function and pubertal development in thalassemia major

ABSTRACT

Early and regular blood transfusion therapy in patients with homozygous beta-thalassemia decreases the complications of severe anemia and prolongs survival. In the long term, however, the beneficial effects of transfusions are limited by the organ damage resulting from iron overload. Endocrine complications in patients with thalassemia major in developing countries may be frequent due to suboptimal iron chelation. The goal of this study was to investigate the gonadal function and secondary sex characteristics in thalassemic patients. We studied 71 randomly selected adolescent thalassemic patients and 30 age- and sex-matched controls. Sexual maturity rating [SMR], height and weight, and gonadotropin, sex steroid, and ferritin levels were evaluated. Cases had significantly lower mean height and weight. Also, serum levels of gonadotropins and sex hormones were significantly lower in cases with thalassemia than in controls. Gonadotropin and sex steroid levels were lower in cases with thalassemia who had not used deferoxamine regularly compared to those with a regular chelation therapy regimen. All of the control subjects had sexual maturity ratings of II or above, while 36.6% of thalassemic cases were in Tanner stage I. About 53.3% of controls had surpassed all levels of sexual maturity, while only 2.8% of cases were in the stage SMR V. Distribution of SMR ratings was significantly different in cases and controls. These findings clearly show that a high percentage of thalassemic patients in this part of the country suffer from various endocrine abnormalities, especially impairment in height, growth and sexual maturity. It is wise to consider more sophisticated treatment modalities in these patients, including the administration of sex hormones for the compensation of hormonal abnormalities resulting from hemosiderosis