Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study
Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study
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DOI：
10.1210/jc.2002-021491
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发表时间：
2003-02-01
影响因子：
5.8
通讯作者：
Gravholt, CH
中科院分区：
文献类型：
--
作者：
Bojesen, A;Juul, S;Gravholt, CH
本研究的目的是描述在丹麦产前和产后克氏综合征（KS）的患病率，并确定母亲年龄的影响。所有染色体检查在丹麦在丹麦细胞遗传学中心注册。产前或产后诊断为KS的个体从登记处中提取，并提供诊断时的年龄和母亲的年龄信息。在1970-2000年期间，76，526例男性胎儿产前检查导致163例胎儿诊断为KS核型，相当于每10万男性胎儿中有213例患病。按照产妇年龄进行标准化，其流行率为每100 000名男性153人。出生后，2，480，858名活产婴儿中有696名男性被诊断患有KS，相当于成年男性的患病率约为每100，000人中有40人。不到10%的预期人数在青春期前被诊断出来。高龄产妇对KS的患病率有显著影响，在丹麦KS的诊断严重不足。只有大约四分之一的成年男性KS被诊断出来。该综合征的诊断有明显的延迟。延迟睾酮治疗可能导致肌肉和骨量减少，随后有骨质疏松症的风险。
The objective of this study was to describe the prevalence of Klinefelter syndrome (KS) prenatally and postnatally in Denmark and determine the influence of maternal age.All chromosomal examinations in Denmark are registered in the Danish Cytogenetic Central Registry. Individuals with KS diagnosed prenatally or postnatally were extracted from the registry with information about age at the time of diagnosis and mother's age.In the period 1970-2000, 76,526 prenatal examinations on male fetuses resulted in the diagnosis of 163 fetuses with KS karyotype, corresponding to a prevalence of 213 per 100,000 male fetuses. Standardization according to maternal age resulted in a prevalence of 153 per 100,000 males. Postnatally, 696 males of 2,480,858 live born were diagnosed with KS, corresponding to a prevalence among adult men of approximately 40 per 100,000. Less than 10% of the expected number was diagnosed before puberty. Advanced maternal age had a significant impact on the prevalence.KS is severely underdiagnosed in Denmark. Only approximately one fourth of adult males with KS are diagnosed. There is a marked delay in diagnosis of the syndrome. A delay in treatment with testosterone may lead to decreased muscle and bone mass with subsequent risk of osteoporosis.