Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study
Abstract
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.
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- Authors
- Bojesen, A., Juul, S., & Gravholt, C. H.
- Affiliations
- Aarhus Municipality (DK)
- Aarhus University (DK)
- Corresponding author
- Bojesen, Anders
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2003-02
- Volume
- 88
- Issue
- 2
- Pages
- 622-626
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2122617439
- Cited by
- 894
- References
- 31
- Citations by year
- 2026: 27 · 2025: 44 · 2024: 44 · 2023: 36 · 2022: 55 · 2021: 43 · 2020: 101 · 2019: 42 · 2018: 54 · 2017: 54 · 2016: 42 · 2015: 47 · 2014: 38 · 2013: 34 · 2012: 42
- FWCI
- 4.60
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Keywords
- Klinefelter syndrome, prevalence, prenatal diagnosis, postnatal diagnosis, advanced maternal age, underdiagnosis, delayed diagnosis, testosterone replacement therapy, osteoporosis, male fetus, Denmark
- MeSH terms
- Adolescent, Adult, Aged, Child, Child, Preschool, Chromosome Aberrations, Denmark, Female, Humans, Infant, Infant, Newborn, Klinefelter Syndrome, Male, Maternal Age, Middle Aged, Pregnancy, Prenatal Diagnosis, Registries, Prevalence
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