Clinical Pediatric Endocrinology
Online ISSN : 1347-7358
Print ISSN : 0918-5739
ISSN-L : 0918-5739
Original Articles
A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads
Risa NomuraKentaro MiyaiMichiyo OkadaMichiko KajiwaraMakoto OnoTsutomu OgataIichiro OnishiMana SatoMasaki SekineTakumi AkashiShuki MizutaniKenichi Kashimada
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2015 Volume 24 Issue 1 Pages 11-14


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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© 2015 by The Japanese Society for Pediatric Endocrinology
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