1. 中山大学孙逸仙纪念医院儿科,广东,广州,510120
2. 东莞市妇幼保健院儿童保健科,广东,东莞,523000
网络首发:2020-11-20,
纸质出版:2020
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江转南, 张丽娜, 侯乐乐, 等. 重型β-地中海贫血患者青春发育状况及影响因素[J]. 中山大学学报(医学科学版), 2020,41(6).
Cross-sectional Survey and Influencing Factors for Pubertal Development in Patients with Beta Thalassemia Major[J]. Journal of Sun Yat-sen University (Medical Sciences), 2020, 41(6).
【目的】分析中山大学孙逸仙纪念医院的重型β-地中海贫血(β-TM)患者青春发育特点及影响因素。【方法】通过对42 例年龄≥10 岁β-TM 患者进行随访资料回顾、问卷调查、体格检查及实验室检查等评估青春发育状态,分析影响β-TM 患者青春发育的可能因素。【结果】24 例(57.14%)β-TM 患者出现青春发育异常,女性以乳房不发育、原发性闭经及男性以睾丸不增大、阴茎短小为主要表现。其中β0β0 基因型、脾切除后、维生素D 缺乏或者伴有糖尿病的β-TM 患者的青春发育异常发生率均显著增高,差异有统计学意义(χ2 = 3.966,5.196,5.567,4.714,P = 0.046, 0.023,0.018,0.030)。经Logistic 回归分析得出心MRT2* < 20 ms 是β-TM 患者青春发育异常的独立危险因素。【结论】β-TM 患者青春发育异常较常见,起始祛铁年龄大、严重心铁过载、β0β0 基因型、脾切除后以及合并其他内分泌疾病的β-TM 患者青春发育异常发生率更高,低促性腺激素性腺功能减退症可能是青春发育异常的主要发病机制。
【Objective】The purpose of this study was to investigate puberty development in β-TM patients and to analyze its clinical characteristics and influencing factors. 【Methods】A total of 42 β- TM patients aged ≥10 years old were evaluated for their stages of puberty development by reviewing follow- up data(using the REDCAP system ,the thalassemia follow-up database),questionnaire,physical examination and laboratory tests. To investigate The correlations between multiple factors,such as age,beginning age of iron chelation,iron overload and so on,and abnormal puberty development in β-TM patients,were investigated.【Results】Twenty-four cases of β-TM patients were diagnosed as abnormal puberty development,including 11 girls and 13 boys. The common clinical manifestations of β- TM patients with abnormal puberty development were delayed puberty development and primary amenorrhea for girls and short penis and small testicles for boys. The prevalence rate of abnormal puberty development was significantly higher in β-TM patients who had older beginning age of iron chelation,β0β0 genotype,a history of splenectomy,vitamin D deficiency and diabetes(χ2 = 3.966,5.196,5.567,4.714,P = 0.046,0.023,0.018,0.030). The result of logistic regression analysis indicated that cardiac MRT2* < 20 ms was an independent risk factor for abnormal puberty development in β-TM patients.【Conclusions】Abnormal puberty development in β- TM patients is very common. Influencing factors include beginning age of iron chelation,β0β0 genotype,vitamin D deficiency,diabetes and cardiac iron deposition. Moreover hypogonadotropic hypogonadism may be an important pathogenesis of abnormal puberty development in β-TM patients.
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