Delayed puberty in thalassemia major patients

Abstract

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.

Keywords

• delayed puberty
• endocrine complication
• thalassemia major
• chelation therapy
• serum gonadotropin
• sex hormone