ArticlePloS one2013
Cardiovascular pathology in males and females with 45,X/46,XY mosaicism.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Beyond genital phenotype - Commentary on "Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong".Annals of pediatric endocrinology & metabolism · 2026Article
- Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.Molecular genetics & genomic medicine · 2026Article
- Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men.Basic and clinical andrology · 2023Article
- Cohort profile: pathways to care among people with disorders of sex development (DSD).BMJ open · 2022Article
- Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.American journal of medical genetics. Part A · 2021Article
- Multidisciplinary Approach to the Child with Sex Chromosomal Mosaicism Including a Y-Containing Cell Line.International journal of environmental research and public health · 2021Article
- Aortic elasticity deterioration proves intrinsic abnormality of the ascending aorta in pediatric Turner syndrome unrelated to the aortic valve morphology.Heart and vessels · 2018Article
- Caring for individuals with a difference of sex development (DSD): a Consensus Statement.Nature reviews. Endocrinology · 2018Review
- Novel associations in disorders of sex development: findings from the I-DSD Registry.The Journal of clinical endocrinology and metabolism · 2014Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextThe phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY.
objectiveTo investigate cardiovascular abnormalities in 45,X/46,XY males and to compare them with 45,X/46,XY females.
designPatients with 45,X/46,XY mosaicism were selected from the Belgian Registry for Growth and Puberty problems and via the multidisciplinary clinic for disorders of sexual development. PATIENTS: EIGHTEEN PATIENTS WERE INCLUDED: 8 raised as females (F) and 10 as males (M).
interventionComplete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI. MAIN OUTCOME MEASUREMENT: Cardiac parameters were registered for both groups. In a second phase, clinical features and external masculinisation score (EMS) were retrospectively collected from the medical files.
resultsA structural heart defect was diagnosed before inclusion in 1 F with coarctation and 1 M with spontaneously closed VSD. A bicuspid aortic valve was found in 8 (3 F, 5 M). Dilation of the ascending aorta was present in 4 M and was severe in 2 young boys. QTc was prolonged in 3 F and 2 M.
conclusionMales with 45,X/46,XY mosaicism have similar cardiovascular pathology as 45,X/46,XY females. Dilation of the ascending aorta can be important, also in males. We advise cardiac screening and life-long monitoring in all males with 45,X/46,XY mosaicism according to the existing guidelines for Turner syndrome.
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