Introduction: Homozygous β-thalassemia major (hβ-TM) is an autosomal recessive hemoglobinopathy with prominent endocrine complications. Our aims were to evaluate reproductive hormones, hypothalamic-pituitary-ovarian axis, and fertility in female patients with hβ-TM.
Patients and Methods: One hundred forty-four female patients with hβ-TM, aged 18 years or above were enrolled in the study. Seventy-four age-matched healthy female volunteers served as controls. Two blood samples were drawn from each subject at 20-minute intervals for the determination of the resting levels of the following hormones: luteinizing hormone, follicle-stimulating hormone, estradiol, insulin-like growth factor-1, and insulin-like growth factor binding protein-3. The hypothalamic-pituitary-ovarian axis was also assessed using the gonadotropin-releasing hormone test. Menstruation status and growth rate were also noted. Puberty was assessed in both groups by Tanner classification.
Results: The mean age of puberty in the control group and hβ-TM patients was 10.8±1.2 and 16.4±2.2 years, respectively (P=0.01). The mean age of menarche was 11.4±1.3 and 16.8±2.1 years in control subjects and patients with thalassemia, respectively (P=0.01). Of studied subjects with hβ-TM, 61 (42.4%) were short in stature (height below the third percentile and below −2 SD scores). The baseline and peak levels of luteinizing hormone, follicle-stimulating hormone, and estradiol after gonadotropin-releasing hormone test in thalassemic group were significantly lower than in the control group.
Conclusions: Further interventional studies are warranted to better clarify the treatment options to attain normal puberty and sexual maturation in patients with thalassemia.