A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely
uneven distribution of 46,XY cells between lymphocytes and gonads |
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| Authors: | Risa Nomura Kentaro Miyai Michiyo Okada Michiko Kajiwara Makoto Ono Tsutomu Ogata Iichiro Onishi Mana Sato Masaki Sekine Takumi Akashi Shuki Mizutani Kenichi Kashimada |
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| Affiliation: | 1.Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan;2.Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan;3.Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan;4.Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan |
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| Abstract: | In 45,X/46,XY DSDs, the proportion of the two cell lineages is uneven in different organsand tissues, and 45,X and 46,XY cells can be found throughout the body. The gonadaldevelopment of 45,X/46,XY patients depends on the population of 46,XY cells in the gonadsand the clinical features are variable. We had a 45,X/46,XY DSD patient whose 46,XYpopulation in peripheral blood was extremely low, less than 0.2%, and was not detected byFISH analysis. However, the patient showed bilateral testicular development and more than50% of the cells in the gonads had the 46,XY karyotype. This case suggests that adrastically imbalanced distribution could occur in 45,X/46,XY DSD cases. |
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| Keywords: | 45,X/46,XY DSD (disorder of sexual development) mosaicism chimerism SRY FISH (fluorescence in situ hybridization) |
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