ArticleIndian journal of endocrinology and metabolism2012
An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations.
Article in Indian journal of endocrinology and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.Frontiers in endocrinology · 2025Article
- Phenomenology of Tremor In 48,XXYY Syndrome: A Case Report.Movement disorders clinical practice · 2023Article
- Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome.Case reports in genetics · 2015Article
- Distinct mechanism of formation of the 48, XXYY karyotype.Molecular cytogenetics · 2013Article
- Rare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report.Journal of human reproductive sciencesArticle
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Authors and funding
5 authors.
Funding
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Abstract
48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.
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