ArticleTranslational pediatrics2024
46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review.
Article in Translational pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.Frontiers in endocrinology · 2026Article
- Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.Frontiers in pediatrics · 2025Article
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Authors and funding
3 authors.
Funding
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Abstract
Background: The development of the testes is a tightly regulated process, requiring the coordination of multiple genes. Mutations in these genes can result in 46,XY gonadal dysgenesis. Case Description: A 5-month-old boy was admitted to our hospital due to gonadal dysgenesis. The patient was born to a healthy couple after 37+4 weeks of pregnancy and with a natural delivery. In the course of the disease, the child showed marked growth retardation, elevated muscle enzymes and liver enzymes. During the follow-up, he developed hypotonia and low muscle strength. Chromosomal microarray analysis (CMA) testing uncovered a 7.79 Mb duplication at Xp21 in both the patient and his mother, encompassing 30 coding genes, including the Conclusions: The duplication of Xp21 can result in a rare genetic disorder characterized by various abnormalities in males, including short stature, mental retardation, muscular dystrophy, and gonadal dysplasia. These symptoms are often overlooked and misdiagnosed. Targeted gene detection should be completed to enable early diagnosis and intervention to improve prognosis. This study has enhanced clinicians' understanding of the disease.
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