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Orphanet J Rare Dis. 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2.

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.

Author information

1
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark. agnethe.berglund@clin.au.dk.
2
Department of Molecular Medicine, Aarhus University Hospital, Brendstrupgaardsvej 21A, 8200, Aarhus N, Denmark. agnethe.berglund@clin.au.dk.
3
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
4
Department of Molecular Medicine, Aarhus University Hospital, Brendstrupgaardsvej 21A, 8200, Aarhus N, Denmark.
5
Department of Clinical Genetics, Odense University Hospital, J.B. Winsløws Vej 4, 5000, Odense C, Denmark.
6
Unit for Thrombosis Research, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
7
Department of Clinical Biochemistry, Hospital of South West Jutland, Finsensgade 35, 6700, Esbjerg, Denmark.
8
Department of Pediatrics, Center of Rare Diseases, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.

Abstract

BACKGROUND:

Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y).

METHODS:

This study is a nationwide cohort study in a public health care system. The Danish Cytogenetic Central Registry (DCCR) holds information on all karyotypes performed in Denmark since 1961. We identified all individuals in the DCCR with a relevant SCA during 1961-2014; TS: n = 1156; KS: n = 1235; Triple X: n = 197; and Double Y: n = 287. From Statistics Denmark, which holds an extensive collection of data on the Danish population, complete data concerning dates of death and migrations in and out of Denmark were retrieved for all individuals.

RESULTS:

The prevalence among newborns was as follows: TS: 59 per 100,000 females; KS: 57 per 100,000 males; Triple X: 11 per 100,000 females; and Double Y: 18 per 100,000 males. Compared with the expected number among newborns, all TS, 38% of KS, 13% of Triple X, and 18% of Double Y did eventually receive a diagnosis. The incidence of TS with other karyotypes than 45,X (P < 0.0001), KS (P = 0.02), and Double Y (P = 0.03) increased during the study period whereas the incidence of 45,X TS decreased (P = 0.0006). The incidence of Triple X was stable (P = 0.22).

CONCLUSIONS:

The prevalence of TS is higher than previously identified, and the karyotypic composition of the TS population is changing. Non-diagnosis is extensive among KS, Triple X and Double Y, whereas all TS seem to become diagnosed. The diagnostic activity has increased among TS with other karyotypes than 45,X as well as among KS and Double Y.

KEYWORDS:

Age at diagnosis; Double Y syndrome; Incidence; Klinefelter syndrome; Prevalence; Triple X syndrome; Turner syndrome

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