PUBERTAL DEVELOPMENT IN THALASSEMIC PATIENTS AFTER ALLOGENIC BONE-MARROW TRANSPLANTATION

To obtain further insight into gonadal function, a series of 50 prepub ertal patients with beta-thalassaemia major (24 boys and 26 girls) age d from 12.6 to 18 years (mean 15 years) who had received a bone marrow transplantation (BMT) during childhood or the peripubertal period, at the age of 3.6-14.5 years (mean 10.8 years), were periodically re-eva luated at intervals of 6-12 months. The last evaluation was done 1-9 y ears (mean 4.2 years) after BMT. At each examination we measured heigh t, pubertal stage, plasma gonadotrophins (LH and FSH) before and after the GnRH stimulation test (i.v.), sex steroids (total and free testos terone in males, and 17 beta-oestradiol in females), serum ferritin an d bone age. Fourty percent of patients entered or passed through puber ty normally despite clinical and hormonal evidence of gonadal dysfunct ion in most of them. A correlation was not found between the pubertal stage and age at BMT, and no statistical difference between patients w ho did not enter into puberty and patients with spontaneous pubertal d evelopment was found in serum ferritin levels. Our data confirm that g onads in male and female thalassaemic patients are exposed to the cyto toxic effects of the preparative transplant regime with alkylating age nts. In some patients absence of pubertal development was due to gonad otrophin insufficiency, probably secondary to previous iron overload. These findings emphasize the need for a vigilant long-term follow up s tudy of thalassaemic patients who have had BMT.