Papadimas J, Mandala E, Pados G, Kokkas B, Georgiadis G, Tarlatzis B, Bontis J, Sinakos Z, Mantalenakis S
1st Department of Obstetrics and Gynaecology, Aristotle University of Thessaloniki, 'Hippocration' General Hospital, Greece.
Hum Reprod. 1996 Sep;11(9):1900-4. doi: 10.1093/oxfordjournals.humrep.a019515.
Delayed puberty and hypogonadism are frequently observed in patients with homozygous beta-thalassaemia. We evaluated the pituitary-testicular axis in 30 thalassaemic men, aged from 17 to 35 years who were regularly transfused and underwent chelation therapy, while emphasis was given to pituitary reserves of gonadotrophins and the correlation of hormones with serum ferritin (SF). The investigation included endocrinological examination, evaluation of serum basal levels of follicle stimulating hormone (FSH), luteinizing hormone (LH), free testosterone and gonadotrophin-releasing hormone (GnRH) test and also spermiograms. According to the results, patients were divided into three groups: group A, which included 18 eugonadal patients with moderately elevated SF, group B which included six patients who had hypogonadotrophic hypogonadism and excessive elevation of SF, and group C, which included six patients characterized as intermediate, with regard to sexual maturation and SF levels. In conclusion, beta-thalassaemia major leads to variable pituitary iron overload and thus hypophyseal damage. This endocrine disturbance is becoming less frequent nowadays with early and intensive chelation therapy.
纯合子β地中海贫血患者常出现青春期延迟和性腺功能减退。我们评估了30名年龄在17至35岁之间、定期输血并接受螯合治疗的地中海贫血男性的垂体 - 睾丸轴，重点关注促性腺激素的垂体储备以及激素与血清铁蛋白（SF）的相关性。调查包括内分泌检查、评估血清基础卵泡刺激素（FSH）、黄体生成素（LH）、游离睾酮水平以及促性腺激素释放激素（GnRH）试验，还有精液分析。根据结果，患者被分为三组：A组包括18名性腺功能正常但SF中度升高的患者；B组包括6名促性腺激素缺乏性性腺功能减退且SF过度升高的患者；C组包括6名在性成熟和SF水平方面属于中间状态的患者。总之，重型β地中海贫血会导致垂体铁过载程度不同，进而造成垂体损伤。如今，随着早期强化螯合治疗，这种内分泌紊乱越来越少见。
