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Publication year
2024Source
Nederlands Tijdschrift voor Geneeskunde, 168, (2024), article D7784ISSN
Publication type
Article / Letter to editor
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Organization
Paediatrics
Journal title
Nederlands Tijdschrift voor Geneeskunde
Volume
vol. 168
Subject
Paediatrics - Radboud University Medical CenterAbstract
Turner syndrome (TS) is one of the most common sex chromosomal abnormalities affecting girls and women. Diagnosis of this condition can be delayed due to a variation in clinical presentation, although an early age at diagnosis is important for several reasons. It enables psychosocial support for girls and their parents; early initiation of growth hormone therapy; puberty induction at an appropriate age; early recognition of comorbidities, such as cardiac or renal abnormalities; and timely removal of the gonads in girls with Y-chromosomal material, who are at risk for gonadoblastoma. By increasing the knowledge of health care professionals and implementing screening programs for girls with short stature, delayed puberty and/or congenital heart disease such as coarctation of the aorta, more girls might be diagnosed at an early age. This allows for lifelong follow up, which is indicated to prevent morbidity and mortality in the long term.
This item appears in the following Collection(s)
- Academic publications [244001]
- Electronic publications [130996]
- Faculty of Medical Sciences [92816]
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