ArticleCase reports in medicine2010
48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.
Article in Case reports in medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Natural History of Prenatally Identified Children with 48,XXYY Syndrome in Infancy and Early Childhood.medRxiv : the preprint server for health sciences · 2026Article
- A Challenging Case of Diabetes in a Patient With XXYY Syndrome.JCEM case reports · 2024Article
- 48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report.Journal of medical case reports · 2020Article
- 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
- An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations.Indian journal of endocrinology and metabolism · 2012Article
- Fertility achieved throughAsian journal of andrologyArticle
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.