Evaluation of Semen Quality, Endocrine Profile and Hypothalamus-Pituitary-Testis Axis in Male Patients With Homozygous β-Thalassemia Major

PurposeThe endocrine profile, hypothalamus-pituitary-testis axis and semen quality were evaluated in male patients with homozygous β-thalassemia major.Materials and MethodsA total of 168 male patients 18 years or older with homozygous β-thalassemia major were enrolled in the study and 84 healthy age matched male volunteers served as controls. All subjects provided a medical history and underwent physical examination and routine semen analysis. Two blood samples were drawn from each participant at 20-minute intervals to determine the resting levels of certain hormones, including luteinizing hormone, follicle-stimulating hormone, prolactin, testosterone, estradiol, insulin-like growth factor-1 and insulin like growth factor binding protein-3. The hypothalamus-pituitary-testis axis was also assessed using the luteinizing hormone-releasing hormone test.ResultsThe prevalence of hypogonadotropic hypogonadism was 76.2% (128 patients). Of the studied patients with homozygous β-thalassemia major 75 (44.6%) were short. Compared with normal controls the patients with homozygous β-thalassemia major had lower serum luteinizing hormone, follicle-stimulating hormone, insulin-like growth factor-1, insulin-like growth factor-1 binding protein-3 and testosterone. In addition, there were decreased luteinizing hormone and follicle-stimulating hormone responses to luteinizing hormone-releasing hormone in patients with homozygous β-thalassemia major compared to those in normal controls. Total sperm count, sperm motility and percent normal sperm morphology were lower in patients with homozygous β-thalassemia major than in controls.ConclusionsMost subjects with β-thalassemia major have hypogonadotropic hypogonadism state, impairment fertility and growth retardation. Further studies are warranted to better clarify the causes and consequences of hypogonadotropic hypogonadism in patients with homozygous β-thalassemia major.