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重型地中海贫血成年男性患者的性腺功能障碍:给地中海贫血护理临床医生的最新资讯

Gonadal dysfunction in adult male patients with thalassemia major: an update for clinicians caring for thalassemia.

作者信息

De Sanctis Vincenzo, Soliman Ashraf T, Elsedfy Heba, Di Maio Salvatore, Canatan Duran, Soliman Nada, Karimi Mehran, Kattamis Christos

机构信息

a Pediatric and Endocrine Outpatient Clinic , Quisisana Hospital , Ferrara , Italy.

b Department of Pediatrics, Division of Endocrinology , Alexandria University Children's Hospital , Alexandria , Egypt.

出版信息

Expert Rev Hematol. 2017 Dec;10(12):1095-1106. doi: 10.1080/17474086.2017.1398080. Epub 2017 Nov 2.

Abstract

Hypogonadism is the most frequently reported endocrine complication, affecting 40%-80% of thalassemia major (TM) patients. The prevalence and severity of hypogonadism in TM varies among studies, depending on patients' age, genotype, transfusion frequency and starting age and efficiency of iron chelation. Areas covered: The diagnosis requires careful clinical assessment and appropriate laboratory testing. Its management is more complex compared to other 'classical' causes of hypogonadism because of multiple associated disorders (cardiac, hepatic and endocrine) and other contributing factors basically iron overload and iron toxicity. Expert commentary: Early recognition and treatment of hypogonadism in TM patients is most important to prevent late complications and to enhance the chances of parenthood. The goal of management is to restore deficient glandular function. If fertility is the issue and the testis is under-stimulated because of gonadotropin deficiency, it is possible to induce or restore spermatogenesis with exogenous gonadotropins in some patients. Assisted reproductive techniques may supplementary help to overcome previously untreatable causes of male infertility. These positive achievements should encourage health care providers to pay closer attention to the reproductive health of TM patients. This would involve the collaboration of clinicians caring for thalassemia with endocrinologists and specialists in assisted reproductive technologies.

摘要

性腺功能减退是最常报道的内分泌并发症,影响40%-80%的重型地中海贫血(TM)患者。TM中性腺功能减退的患病率和严重程度在不同研究中有所差异,这取决于患者的年龄、基因型、输血频率以及铁螯合治疗的起始年龄和效果。涵盖领域:诊断需要仔细的临床评估和适当的实验室检查。由于存在多种相关疾病(心脏、肝脏和内分泌疾病)以及其他促成因素(主要是铁过载和铁毒性),与其他“经典”性腺功能减退病因相比,其管理更为复杂。专家评论:早期识别和治疗TM患者的性腺功能减退对于预防晚期并发症和增加生育机会至关重要。管理的目标是恢复不足的腺体功能。如果问题是生育能力,且由于促性腺激素缺乏导致睾丸刺激不足,在一些患者中可以使用外源性促性腺激素诱导或恢复精子发生。辅助生殖技术可能有助于克服以前无法治疗的男性不育原因。这些积极成果应鼓励医疗保健提供者更加关注TM患者的生殖健康。这将涉及护理地中海贫血患者的临床医生与内分泌学家及辅助生殖技术专家的合作。

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