ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2015
A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads.
Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2015. 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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5 citing papers in PubMed.
- A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).Clinical and experimental reproductive medicine · 2026Article
- Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature.F&S reports · 2026Article
- Pubertal induction in Turner syndrome without gonadal function: A possibility of earlier, lower-dose estrogen therapy.Frontiers in endocrinology · 2023Review
- Article
- Short stature andPeerJ · 2020Article
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12 authors.
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Abstract
In 45,X/46,XY DSDs, the proportion of the two cell lineages is uneven in different organs and tissues, and 45,X and 46,XY cells can be found throughout the body. The gonadal development of 45,X/46,XY patients depends on the population of 46,XY cells in the gonads and the clinical features are variable. We had a 45,X/46,XY DSD patient whose 46,XY population in peripheral blood was extremely low, less than 0.2%, and was not detected by FISH analysis. However, the patient showed bilateral testicular development and more than 50% of the cells in the gonads had the 46,XY karyotype. This case suggests that a drastically imbalanced distribution could occur in 45,X/46,XY DSD cases.
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