Bone Health in Children and Adolescents with Sex Chromosome Aneuploidies: A Narrative Review
5 affiliations
- 1Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy
- 2Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy
- 3Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy
- 4Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00189 Rome, Italy
- 5Institute of Biochemistry and Cell Biology (IBBC-CNR), c/o Department of Sensory Organs, Sapienza University of Rome, 00161 Rome, Italy
Abstract
Background/Objectives: Sex chromosome aneuploidies (SCAs)—including Turner syndrome, Klinefelter syndrome, Trisomy X (47,XXX), and 47,XYY (Jacobs) syndrome—are among the most common chromosomal conditions in humans. The available evidence on skeletal health in SCAs is heterogeneous and varies substantially across conditions. Although skeletal abnormalities and increased fracture risk are well documented in Turner syndrome, pediatric evidence in Klinefelter syndrome and Trisomy X remains limited, while dedicated skeletal data for 47,XYY are essentially absent. This narrative review summarizes current evidence on bone health in children and adolescents with the major SCAs. Methods: A structured literature search of PubMed/MEDLINE, Embase, and the Cochrane Library was conducted, supplemented by backward and forward citation tracking. Pediatric studies were prioritized, while adult and mechanistic studies were included when necessary to address evidence gaps. Owing to the narrative design, no formal risk-of-bias assessment or quantitative synthesis was performed. Results: Pediatric evidence is most extensive for Turner syndrome, in which fracture risk and bone mineral status are influenced by ovarian insufficiency, growth, body size, comorbidities, and treatment exposure. Direct pediatric skeletal evidence for Klinefelter syndrome and Trisomy X remains limited and heterogeneous, deriving from small observational studies and, for Klinefelter syndrome, a randomized interventional trial. Dedicated data for 47,XYY syndrome are essentially absent. Interpretation of dual-energy X-ray absorptiometry requires particular attention to short stature, tall stature, and pubertal delay. Conclusions: Clinical assessment should be individualized, with attention to endocrine and nutritional factors, appropriate interpretation of bone imaging, and promotion of bone-healthy lifestyle measures. Further prospective pediatric studies are needed to clarify fracture risk, monitoring strategies, and treatment effects across SCAs.
Related
- Green exercise as a potential pathway to promoting mental health in children and adolescents: a narrative review
- Physical activity, psychological capital, and mental health equity in children and adolescents: a narrative review and framework development
- Avoidant/Restrictive Food Intake Disorder in Children and Adolescents: Nutritional Risk, Diagnostic Boundaries, and Multidisciplinary Care—A Narrative Review
- Clinical service needs and outcomes for older children and adolescents in intensive care: a narrative review
- From Lab to App (and Back): A Conceptual Framework for Evidence-Based Digital Mental Health Interventions in Children and Adolescents
BibTeX
@article{paparella2026bone,
title = {{Bone Health in Children and Adolescents with Sex Chromosome Aneuploidies: A Narrative Review}},
author = {Roberto Paparella and Fabiola Panvino and Vittorio Maglione and Francesca Tarani and Marcello Niceta and Debora Rasio and Ida Pucarelli and Marco Fiore and Luigi Tarani},
journal = {Journal of Clinical Medicine},
year = {2026},
month = nov,
doi = {10.3390/jcm15218684},
url = {https://www.mdpi.com/2077-0383/15/21/8684},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Bone Health in Children and Adolescents with Sex Chromosome Aneuploidies: A Narrative Review
AU - Roberto Paparella
AU - Fabiola Panvino
AU - Vittorio Maglione
AU - Francesca Tarani
AU - Marcello Niceta
AU - Debora Rasio
AU - Ida Pucarelli
AU - Marco Fiore
AU - Luigi Tarani
PY - 2026
DA - 2026/11/07
JO - Journal of Clinical Medicine
DO - 10.3390/jcm15218684
UR - https://www.mdpi.com/2077-0383/15/21/8684
AB - Background/Objectives: Sex chromosome aneuploidies (SCAs)—including Turner syndrome, Klinefelter syndrome, Trisomy X (47,XXX), and 47,XYY (Jacobs) syndrome—are among the most common chromosomal conditions in humans. The available evidence on skeletal health in SCAs is heterogeneous and varies substantially across conditions. Although skeletal abnormalities and increased fracture risk are well documented in Turner syndrome, pediatric evidence in Klinefelter syndrome and Trisomy X remains limited, while dedicated skeletal data for 47,XYY are essentially absent. This narrative review summarizes current evidence on bone health in children and adolescents with the major SCAs. Methods: A structured literature search of PubMed/MEDLINE, Embase, and the Cochrane Library was conducted, supplemented by backward and forward citation tracking. Pediatric studies were prioritized, while adult and mechanistic studies were included when necessary to address evidence gaps. Owing to the narrative design, no formal risk-of-bias assessment or quantitative synthesis was performed. Results: Pediatric evidence is most extensive for Turner syndrome, in which fracture risk and bone mineral status are influenced by ovarian insufficiency, growth, body size, comorbidities, and treatment exposure. Direct pediatric skeletal evidence for Klinefelter syndrome and Trisomy X remains limited and heterogeneous, deriving from small observational studies and, for Klinefelter syndrome, a randomized interventional trial. Dedicated data for 47,XYY syndrome are essentially absent. Interpretation of dual-energy X-ray absorptiometry requires particular attention to short stature, tall stature, and pubertal delay. Conclusions: Clinical assessment should be individualized, with attention to endocrine and nutritional factors, appropriate interpretation of bone imaging, and promotion of bone-healthy lifestyle measures. Further prospective pediatric studies are needed to clarify fracture risk, monitoring strategies, and treatment effects across SCAs.
SN - 2077-0383
ER -