De Sanctis Vincenzo, Soliman Ashraf T, Elsedfy Heba, Albu Alice, Al Jaouni Soad, Anastasi Salvatore, Bisconte Maria Grazia, Canatan Duran, Christou Soteroula, Daar Shahina, Di Maio Salvatore, El Kholy Mohamed, Khater Doaa, Elshinawy Mohamed, Kilinc Yurdanur, Mattei Roberto, Mosli Hala H, Quota Alessandra, Roberti Maria Grazia, Sobti Praveen, Yaarubi Saif Al, Canpisi Saveria, Kattamis Christos
Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.
Department of Pediatrics, Division of Endocrinology, Hamad General Hospital Doha, Qatar and Department of Pediatrics, Division of Endocrinology, Alexandria University Children's Hospital, Alexandria, Egypt.
Mediterr J Hematol Infect Dis. 2017 Jan 1;9(1):e2017001. doi: 10.4084/MJHID.2017.001. eCollection 2017.
Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder. Also to be aware of the side effects, contraindications and monitoring of sex steroid therapy. In this paper, practical ICET-A recommendations for the management of hypogonadism in adult females with TM are addressed.
In March 2015, the Coordinator of the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) conducted a two-step survey to assess the attitudes and practices of doctors in the ICET-A network taking care of adult female TM patients with hypogonadism. They were clinically characterized by the absence of pubertal development or discontinuation or regression of the maturation of secondary sex characteristics, and biochemically by persistent low FSH, LH and estradiol levels. Recently a supplementary survey on adult female hypogonadism in TM was undertaken within the ICET-A network.
The completed questionnaires were returned by 16 of 27 specialists (59.2%) following 590 female TM patients over the age of 18 years; 315 patients (53.3%) had hypogonadism, and only 245 (74.6%) were on hormone replacement therapy (HRT). Contraceptive oral pills (COC) were the first treatment choice in 11 centers (68.7%). A wide range of COCs was used with different progestin contents. In general, the patients' compliance to treatment was reported as good in 81.2 % of centers. The frequency of required tests for follow-up HRT, in addition to the regular check-up for thalassemia, was variable in the participating centers.
Doctors taking care of TM patients should have sound knowledge of the pathophysiology of hypogonadism in adult females with TM. They should know the potential effects of HRT including advantages and disadvantages of estrogen and progestins. Moreover, they should keep in consideration the emotional needs of these patients dreaming of attaining a full pubertal development.
多次输血的重型地中海贫血（TM）患者常出现严重的内分泌并发症，主要原因是铁过载、贫血和慢性肝病，这需要专家及时进行诊断、治疗和随访。记录在案的最常见内分泌并发症是低促性腺激素性性腺功能减退，其随着年龄和相关合并症的增加而增多。因此，医生清楚了解这种疾病的病理生理学和治疗方法很重要。同时也要了解性类固醇治疗的副作用、禁忌症和监测方法。本文阐述了国际地中海贫血和青少年医学内分泌疾病临床医生网络（ICET-A）针对成年女性TM患者性腺功能减退管理的实用建议。
2015年3月，地中海贫血和青少年医学内分泌疾病国际临床医生网络（ICET-A）的协调员进行了两步调查，以评估ICET-A网络中负责成年女性TM性腺功能减退患者的医生的态度和做法。这些患者的临床特征为青春期发育未出现或第二性征成熟停止或退化，生化特征为促卵泡生成素（FSH）、促黄体生成素（LH）和雌二醇水平持续偏低。最近，ICET-A网络内针对TM成年女性性腺功能减退进行了一项补充调查。
27名专家中有16名（59.2%）返回了完整问卷，涉及590名18岁以上的女性TM患者；315名患者（53.3%）患有性腺功能减退，只有245名（74.6%）接受激素替代疗法（HRT）。避孕药丸（COC）是11个中心（68.7%）的首选治疗方法。使用了多种含不同孕激素成分的COC。总体而言，81.2%的中心报告患者对治疗的依从性良好。除了定期进行地中海贫血检查外，参与调查的中心进行后续HRT所需检查的频率各不相同。
负责TM患者的医生应充分了解成年女性TM患者性腺功能减退的病理生理学。他们应了解HRT的潜在影响，包括雌激素和孕激素的优缺点。此外，他们应考虑到这些渴望实现完全青春期发育的患者的情感需求。
