An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations
Background: Oxidative stress, defined as an imbalance between reactive oxygen species and antioxidant defenses, plays a pivotal role in the pathogenesis of sex chromosome aneuploidies (SCAs), such as Turner syndrome (TS) and Klinefelter syndrome (KS). Pediatric patients with SCAs are particularly su...
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MDPI AG
2025-04-01
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| Series: | Antioxidants |
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| author | Roberto Paparella Fabiola Panvino Francesca Tarani Benedetto D’Agostino Lucia Leonardi Giampiero Ferraguti Sabrina Venditti Fiorenza Colloridi Ida Pucarelli Luigi Tarani Marco Fiore |
| author_facet | Roberto Paparella Fabiola Panvino Francesca Tarani Benedetto D’Agostino Lucia Leonardi Giampiero Ferraguti Sabrina Venditti Fiorenza Colloridi Ida Pucarelli Luigi Tarani Marco Fiore |
| author_sort | Roberto Paparella |
| collection | DOAJ |
| description | Background: Oxidative stress, defined as an imbalance between reactive oxygen species and antioxidant defenses, plays a pivotal role in the pathogenesis of sex chromosome aneuploidies (SCAs), such as Turner syndrome (TS) and Klinefelter syndrome (KS). Pediatric patients with SCAs are particularly susceptible due to hormonal deficiencies, metabolic disturbances, and systemic complications. Methods: A comprehensive literature search was conducted in November 2024 using PubMed, Scopus, and Web of Science. Keywords included “antioxidants”, “oxidative stress”, “pediatrics”, “Turner syndrome”, “Klinefelter syndrome”, and “sex chromosome aneuploidies”. English-language articles were included without publication year restrictions. Relevant data on oxidative stress mechanisms and antioxidant interventions were systematically extracted. Results: The relationship between oxidative stress and SCAs can be described as bidirectional, where oxidative stress both contributes to and is exacerbated by aneuploidies. TS is marked by estrogen deficiency, cardiovascular anomalies, and metabolic dysfunction, all linked to heightened oxidative stress. KS is associated with hypogonadism, metabolic syndrome, and neurocognitive challenges, further exacerbated by oxidative damage. The aneuploid condition predisposes to increased oxidative stress in other SCAs, including 47,XXX and 47,XYY, as well as in high-grade aneuploidies. Emerging evidence highlights the therapeutic potential of antioxidants, including vitamin C, vitamin E, glutathione precursors, polyphenols, and melatonin. These interventions, when combined with hormonal therapies such as estrogen replacement in TS or testosterone replacement in KS, demonstrate synergistic effects in restoring redox balance and mitigating systemic complications. Conclusions: Oxidative stress significantly impacts the progression of SCAs in pediatric populations, amplifying risks across metabolic, cardiovascular, and neurocognitive domains. Early, tailored antioxidant strategies, integrated with syndrome-specific hormonal therapies, could reduce long-term complications and improve patient outcomes. Future research should focus on standardizing protocols to optimize these interventions for pediatric patients with SCAs. |
| format | Article |
| id | doaj-art-fe9b935f6d7f4f5c8f2c048075401359 |
| institution | DOAJ |
| issn | 2076-3921 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | MDPI AG |
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| series | Antioxidants |
| spelling | doaj-art-fe9b935f6d7f4f5c8f2c0480754013592025-08-20T03:14:29ZengMDPI AGAntioxidants2076-39212025-04-0114553110.3390/antiox14050531An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric PopulationsRoberto Paparella0Fabiola Panvino1Francesca Tarani2Benedetto D’Agostino3Lucia Leonardi4Giampiero Ferraguti5Sabrina Venditti6Fiorenza Colloridi7Ida Pucarelli8Luigi Tarani9Marco Fiore10Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Human Neuroscience, Section of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Biology and Biotechnologies “Charles Darwin”, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00185 Rome, ItalyInstitute of Biochemistry and Cell Biology (IBBC-CNR), Department of Sensory Organs, Sapienza University of Rome, 00185 Rome, ItalyBackground: Oxidative stress, defined as an imbalance between reactive oxygen species and antioxidant defenses, plays a pivotal role in the pathogenesis of sex chromosome aneuploidies (SCAs), such as Turner syndrome (TS) and Klinefelter syndrome (KS). Pediatric patients with SCAs are particularly susceptible due to hormonal deficiencies, metabolic disturbances, and systemic complications. Methods: A comprehensive literature search was conducted in November 2024 using PubMed, Scopus, and Web of Science. Keywords included “antioxidants”, “oxidative stress”, “pediatrics”, “Turner syndrome”, “Klinefelter syndrome”, and “sex chromosome aneuploidies”. English-language articles were included without publication year restrictions. Relevant data on oxidative stress mechanisms and antioxidant interventions were systematically extracted. Results: The relationship between oxidative stress and SCAs can be described as bidirectional, where oxidative stress both contributes to and is exacerbated by aneuploidies. TS is marked by estrogen deficiency, cardiovascular anomalies, and metabolic dysfunction, all linked to heightened oxidative stress. KS is associated with hypogonadism, metabolic syndrome, and neurocognitive challenges, further exacerbated by oxidative damage. The aneuploid condition predisposes to increased oxidative stress in other SCAs, including 47,XXX and 47,XYY, as well as in high-grade aneuploidies. Emerging evidence highlights the therapeutic potential of antioxidants, including vitamin C, vitamin E, glutathione precursors, polyphenols, and melatonin. These interventions, when combined with hormonal therapies such as estrogen replacement in TS or testosterone replacement in KS, demonstrate synergistic effects in restoring redox balance and mitigating systemic complications. Conclusions: Oxidative stress significantly impacts the progression of SCAs in pediatric populations, amplifying risks across metabolic, cardiovascular, and neurocognitive domains. Early, tailored antioxidant strategies, integrated with syndrome-specific hormonal therapies, could reduce long-term complications and improve patient outcomes. Future research should focus on standardizing protocols to optimize these interventions for pediatric patients with SCAs.https://www.mdpi.com/2076-3921/14/5/531sex chromosome aneuploidiesantioxidantsoxidative stresspediatricsKlinefelter syndromeTurner syndrome |
| spellingShingle | Roberto Paparella Fabiola Panvino Francesca Tarani Benedetto D’Agostino Lucia Leonardi Giampiero Ferraguti Sabrina Venditti Fiorenza Colloridi Ida Pucarelli Luigi Tarani Marco Fiore An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations Antioxidants sex chromosome aneuploidies antioxidants oxidative stress pediatrics Klinefelter syndrome Turner syndrome |
| title | An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations |
| title_full | An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations |
| title_fullStr | An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations |
| title_full_unstemmed | An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations |
| title_short | An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations |
| title_sort | overview of oxidative stress in sex chromosome aneuploidies in pediatric populations |
| topic | sex chromosome aneuploidies antioxidants oxidative stress pediatrics Klinefelter syndrome Turner syndrome |
| url | https://www.mdpi.com/2076-3921/14/5/531 |
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