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Prenatal and Postnatal Prevalence of Klinefelter Syndrome: A National Registry Study

Medical Department M, Diabetes and Endocrinology (A.B., C.H.G.), Aarhus Kommunehospital, Aarhus University Hospital; and Department of Epidemiology and Social Medicine (S.J.), Aarhus University, DK-8000 Aarhus C, Denmark

Address all correspondence and requests for reprints to: Anders Bojesen, M.D., Medical Department M, Diabetes and Endocrinology, Aarhus Kommunehospital, Aarhus University Hospital, Noerrebrogade 42-44, DK-8000 Aarhus C, Denmark. E-mail: ab{at}dadlnet.dk.

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.

This study was supported by Grant 9600822 from the Danish Health Research Council (Aarhus University, Novo Nordisk Centre for Research in Growth and Regeneration). A.B. is supported with a Ph.D. research fellowship by the University of Aarhus.

Abbreviations: CI, Confidence interval; CVS, chorion villus sampling; DCCR, Danish Cytogenetic Central Registry; KS, Klinefelter syndrome.

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