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Growing up with Klinefelter syndrome: challenges of care in children and adolescents and patients advocacy.

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Τίτλος: Growing up with Klinefelter syndrome: challenges of care in children and adolescents and patients advocacy.
Συγγραφείς: Mameli C; Department of Biomedical and Clinical Science, Università degli Studi di Milano, Milan, Italy. chiara.mameli@unimi.it.; Department of Pediatrics, V.Buzzi Children's Hospital, Milan, Italy. chiara.mameli@unimi.it., Street ME; Department of Medicine and Surgery, University of Parma and Unit of Paediatrics University Hospital of Parma, Parma, Italy., Vernice M; Department of Humanities (DISTUM), University of Urbino Carlo Bo, Urbino, Italy., Tarani L; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Valsecchi C; Department of Pediatrics, V.Buzzi Children's Hospital, Milan, Italy., Fiore G; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, Milan, Italy., Lugarà C; Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, Messina, Italy., Paparella R; Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Shulhai AM; Department of Pediatrics, V.Buzzi Children's Hospital, Milan, Italy., Pedretti P; Associazione Nascere Klinefelter APS, Corinaldo, Italy., Verri A; Associazione Nascere Klinefelter APS, Corinaldo, Italy.; Fondazione Don Carlo Gnocchi, Milano, Italy., Verduci E; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Wasniewska M; Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, Messina, Italy., Aversa T; Department of Human Pathology of Adulthood and Childhood, Unit of Pediatrics, University of Messina, Messina, Italy.
Πηγή: Endocrine [Endocrine] 2026 Sep 28; Vol. 91 (1). Date of Electronic Publication: 2026 Sep 28.
Τύπος έκδοσης: Journal Article; Review
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: Humana Press Country of Publication: United States NLM ID: 9434444 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-0100 (Electronic) Linking ISSN: 1355008X NLM ISO Abbreviation: Endocrine Subsets: MEDLINE
Imprint Name(s): Publication: Feb. 1996- : Totowa, NJ : Humana Press
Original Publication: Houndsmills, Basingstoke, Hants, UK : Macmillan Press, c1994-
Ιατρικοί όροι (MeSH): Klinefelter Syndrome*/therapy , Klinefelter Syndrome*/genetics , Klinefelter Syndrome*/diagnosis , Klinefelter Syndrome*/physiopathology , Klinefelter Syndrome*/psychology , Patient Advocacy*, Adolescent ; Child ; Humans
Περίληψη: Klinefelter syndrome (KS) is a common, yet underdiagnosed sex chromosome aneuploidy characterized by considerable phenotypic variability and multisystem involvement beginning in early life. The increasing use of noninvasive prenatal testing has led to earlier diagnosis, highlighting the need to redefine clinical management across the pediatric age. In this narrative review, pediatric endocrinologists, neuropsychiatrists, psychologists, and genetic experts critically examine current evidence on genetic mechanisms, growth, pubertal development, cardiometabolic risk, and neuropsychological features of KS, and includes a dedicated patient advocacy perspective highlighting family priorities and unmet needs. Emerging evidence indicates that altered body composition, insulin resistance, and neurodevelopmental vulnerabilities may arise in childhood, often preceding overt hypogonadism. Language impairment, executive dysfunction, and social cognitive difficulties represent key determinants of functional outcomes and require early recognition. Early childhood represents a window of opportunity for targeted interventions. A proactive, multidisciplinary, and preventive approach is essential to optimize long-term clinical, cognitive, and social outcomes in individuals with KS.
(© 2026. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Competing Interests: Declarations. Ethics approval: This is a narrative review. No ethical approval is required. Consent to participate: The present review is based on previously collected data from published studies. It does not contain any studies with human participants/animals performed by any of the authors. Consent to publish: The present review is based on previously collected data from published studies. It does not contain any studies with human participants/animals performed by any of the authors. Competing interests: The authors declare no competing interests.
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Entry Date(s): Date Created: 20260928 Date Completed: 20260928 Latest Revision: 20261008
Update Code: 20261008
DOI: 10.1007/s12020-026-04802-5
PMID: 42803872
Βάση Δεδομένων: MEDLINE
Περιγραφή
ISSN:1559-0100
DOI:10.1007/s12020-026-04802-5