Cited by 894Sexual Differentiation and DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesPrenatal Screening and Diagnostics

Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study

Bojesen, Anders, Juul, Svend, Gravholt, Claus Højbjerg·2003·The Journal of Clinical Endocrinology & Metabolism

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.

Integrity signals

Registry

Crossref · 10.1210/jc.2002-021491

Cites

31 of 31 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cites

Flagged first, then by citations

Cited by

Sorted by citations

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
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review