De Sanctis Vincenzo, Soliman Ashraf T, Yassin Mohamed A, Di Maio Salvatore, Daar Shahina, Elsedfy Heba, Soliman Nada, Kattamis Christos
Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.
Acta Biomed. 2018 Feb 16;89(2-S):6-15. doi: 10.23750/abm.v89i2-S.7082.
Failure of pubertal growth, delay or absence of sexual development, infertility and sexual dysfunction due to hypogonadism and defective spermatogenesis are frequent and well recognized disturbances among male patients with transfusion dependent (TD) thalassaemia major (β-thal). These problems are attributed mainly to the damage caused by chronic anaemia and the deposition of excess iron in the pituitary gland and testicles. This is a short review of male pubertal disorders in patients with β-thal written by pediatric endocrinologists and haematologists with an interest and active involvement, in the diagnosis and management of these complications in this group of patients. A vigilant clinical evaluation of growth and puberty, as well as an appropriate hormonal evaluation in poly-transfused (TD β-thal) patients is strongly recommended for early detection and treatment of endocrine dysfunction. Of crucial importance also, is the implementation of an efficient chelation regime from early life, to prevent severe iron load and permanent damage to the endocrine glands, particularly those responsible for gonadal function.
青春期生长发育障碍、性发育延迟或缺失、性腺功能减退和精子发生缺陷导致的不育及性功能障碍，在重度输血依赖型（TD）β地中海贫血男性患者中是常见且广为人知的问题。这些问题主要归因于慢性贫血造成的损害以及过量铁在垂体和睾丸中的沉积。这是一篇由对该组患者这些并发症的诊断和管理感兴趣且积极参与其中的儿科内分泌学家和血液学家撰写的关于β地中海贫血男性患者青春期疾病的简短综述。强烈建议对生长发育和青春期进行警惕的临床评估，并对多次输血的（TD β地中海贫血）患者进行适当的激素评估，以便早期发现和治疗内分泌功能障碍。同样至关重要的是，从生命早期就实施有效的螯合疗法，以防止严重的铁负荷和对内分泌腺，尤其是负责性腺功能的内分泌腺造成永久性损害。
