Journal of Developmental Medicine(Electronic Version)  2026, Vol. 14 Issue (3): 261-265 DOI: xushan68@163.com |
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A case report of DDX3X-related neurodevelopmental disorder caused by DDX3X variant complicated with central precocious puberty
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| Zhang Shuying, Lian Qun, Li Lingli, et al.
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Department of Pediatrics, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian 361003, China
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Abstract
DDX3X-related neurodevelopmental disorder (DDX3X-NDD) is an X-linked neurodevelopmental disorder that can affect multiple systems. This is the first report of precocious puberty caused by DDX3X genetic variants in China at present. This article reports a patient with DDX3X-NDD complicated with central precocious puberty (CPP), caused by a novel DDX3X gene splicing variant (c.1171-1G>A), who was initially treated at the First Affiliated Hospital of Xiamen University in 2019. She was an 8-year-5-month old girl came to clinic because of breast development and pubic hair appearance, accompanied by attention deficit and hyperactive disorder and mental retardation. Laboratory tests were consistent with CPP puberty. Whole exome sequencing revealed a de novo heterozygous variant in DDX3X gene (c.1171-1G>A, her parents were wild-type). Then the patient received 17 months gonadotropin-releasing hormone analogue (GnRHa) treatment, and reflects well. By summarizing the clinical manifestations of DDX3X-NDD complicated with CPP caused by DDX3X variant, aims to enhance clinicians' understanding of these two diseases.
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Received: 19 December 2024
Published: 30 May 2026
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