Delayed puberty in thalassemia major patients

Background Delayed puberty is the most common endocrine com-
plication in thalassemia major. The main cause of delayed pu-
berty in thalassemia major is the failure of the hypothalamic-pitu-
itary axis due to iron accumulation in the pituitary.
Objectives The purpose of this study was to determine the preva-
lence of delayed puberty in β-thalassemia major patients in the
Department of Child Health, Cipto Mangunkusumo Hospital,
Jakarta. This study also evaluated the adequacy of chelation
therapy and determined serum gonadotropin and sex hormone
levels in these patients.
Methods Seventy-two patients with β-thalassemia major aged 13-
18 years old who visited the Thalassemia Outpatient Clinic of Cipto
Mangunkusumo Hospital during February-July 2003 were included
in the study. Each subject underwent examinations to determine
the body weight and height, pubertal status, serum iron level, total
iron binding capacity, and the levels of serum LH, FSH, estradiol
(in girls) or testosterone (in boys).
Results Delayed puberty occurred in 40 of 72 patients (56%). The
majority of patients with delayed puberty showed low levels of se-
rum LH, estradiol, and testosterone whereas low levels of serum
FSH only occurred in 6 of 21 boys and 11 of 19 girls. Most of the
patients without delayed puberty had normal levels of serum LH,
FSH, and estradiol, but 8 of 16 boys showed decreased serum
testosterone levels. Only 3 patients used chelation therapy ad-
equately, all of them showed normal puberty.
Conclusions The prevalence of delayed puberty in β-thalassemia
major patients in this study was still high (56%). Periodic examina-
tion and recording of pubertal stage need to be done in girls who
have reached 8 years old and boys who have reached 9 years old
so that early detection and management of delayed puberty can
be done.