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Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2020-06-01 , DOI: 10.1038/s41436-020-0837-y
Agnethe Berglund 1, 2, 3 , Kirstine Stochholm 3 , Claus Højbjerg Gravholt 2, 3
Affiliation  

Purpose

A systematic description of morbidity in 47,XYY syndrome based on nationwide registry data of hospital diagnoses and prescribed medication.

Methods

All males in Denmark diagnosed with 47,XYY syndrome during 1960–2014 were identified. Each was matched with 100 male controls from the general population. Diagnoses related to hospital encounters (1977–2014) and prescriptions (1996–2014) were analyzed by negative binominal regression and Cox regression, respectively.

Results

47,XYY syndrome was associated with a significantly increased overall incidence of hospital diagnoses (incidence rate ratio = 2.30, confidence interval [CI]: 1.99–2.65), including a significantly increased incidence of diagnoses associated with congenital malformations and genetic disorders as well as with psychiatric, neurologic, respiratory, urogenital, endocrine, circulatory, gastrointestinal, and musculoskeletal system disorders. Diagnoses associated with infections, skin and eye disorders were significantly increased as well. 47,XYY syndrome was associated with a significantly increased occurrence of prescriptions overall (hazard ratio = 1.25, CI: 1.10–1.44), with sex hormones and medication related to the urogenital system, blood, and nervous system being most prominently increased.

Conclusion

47,XYY syndrome is associated with a significantly increased morbidity owing to a wide variety of diseases. Increased awareness of the diverse morbidity in 47,XYY syndrome may help guide clinicians assessing 47,XYY males, thereby improving long-term health outcomes.



中文翻译:

47,XYY 综合征的发病率:一项关于医院诊断和药物使用的全国流行病学研究。

目的

基于全国医院诊断和处方药登记数据的 47,XYY 综合征发病率的系统描述。

方法

确定了 1960 年至 2014 年期间在丹麦被诊断出患有 47,XYY 综合征的所有男性。每个人都与来自普通人群的 100 名男性对照相匹配。分别通过负二项式回归和 Cox 回归分析与医院就诊(1977-2014 年)和处方(1996-2014 年)相关的诊断。

结果

47,XYY 综合征与医院诊断的总体发病率显着增加相关(发病率比 = 2.30,置信区间 [CI]:1.99-2.65),包括与先天性畸形和遗传疾病相关的诊断发病率显着增加以及与精神、神经系统、呼吸系统、泌尿生殖系统、内分泌系统、循环系统、胃肠道和肌肉骨骼系统疾病有关。与感染、皮肤和眼部疾病相关的诊断也显着增加。47,XYY 综合征与总体处方发生率显着增加相关(风险比 = 1.25,CI:1.10-1.44),其中性激素和与泌尿生殖系统、血液和神经系统相关的药物增加最为显着。

结论

47,XYY 综合征与多种疾病导致的发病率显着增加有关。提高对 47,XYY 综合征不同发病率的认识可能有助于指导临床医生评估 47,XYY 男性,从而改善长期健康结果。

更新日期:2020-06-01
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