title: A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads.
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.
authors: Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Risa
authors: R
authors: Nomura
authors: Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Kentaro
authors: K
authors: Miyai
authors: Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan.
authors: Michiyo
authors: M
authors: Okada
authors: Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Michiko
authors: M
authors: Kajiwara
authors: Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Makoto
authors: M
authors: Ono
authors: Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan ; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors: Tsutomu
authors: T
authors: Ogata
authors: Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan.
authors: Iichiro
authors: I
authors: Onishi
authors: Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan.
authors: Mana
authors: M
authors: Sato
authors: Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan.
authors: Masaki
authors: M
authors: Sekine
authors: Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan.
authors: Takumi
authors: T
authors: Akashi
authors: Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Shuki
authors: S
authors: Mizutani
authors: Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Kenichi
authors: K
authors: Kashimada
keywords: 45,X/46,XY DSD (disorder of sexual development); FISH (fluorescence in situ hybridization); SRY; chimerism; mosaicism