ESPE Abstracts

Introduction: Β-thalassemia is a chronic hereditary hemolytic anemia characterized by a defect of synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East. Chelation therapy significantly prolonged the life expectancy of patients. This has led to an increase in the prevalence of endocrine complications, linked to iron overload. Gonadal Dusfunction is a frequent complication in polytransfused beta-thalassemia patients. The key factor involved is iron overload, which causes oxidative damage to the hypothalamic-pituitary-gonadal axis.

Objectives: Describe the frequency of Gonadal Dusfunction in patients with polytransfused β-thalassemia. Study the relationship between Gonadal Dusfunction and serum ferritin level, mean transfusion volume (VTM), duration of transfusion treatment, splenectomy, and compliance with chelation therapy.

Method: This is a descriptive, analytical and monocentric cross-sectional study which was carried out in the CHU Mustapha pediatric department and which concerned 32 patients of pubescent age (20 girls and 12 boys), followed regularly for several years for the most of them, and treated by a transfusion regimen (more than 10 transfusions) combined with chelation therapy. All patients were assessed by history taking, somatic examination, and pubertal developmental stage assessment followed by follicle-stimulating hormone (FSH) and luteinizing hormone (LH) assay, testosterone for boys and estradiol for girls, as well as a GnRH test, bone age, and pelvic ultrasound in girls.

Results: Hypogonadism affected 23 (72%) patients, with 15 (65.2%) girls and 8 (34.8%) boys. Among the 15 girls with hypogonadism, delayed puberty affected 13 (62%) patients, three (13%) patients presented with primary amenorrhea, 4 (17.4%) developed secondary amenorrhea and 2 (8.7%) %) patients had menstrual irregularity. The 8 boys with hypogonadism showed delayed puberty. There is no significant correlation between hypogonadism and serum ferritin level in our study.

Conclusion: Hypogonadotrophic hypogonadism is common in young adults with thalassemia and contributes to low fertility in this population. Early detection of pituitary iron overload is important because severe hypogonadism is not fully reversible by iron chelation.