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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Author(s)

    • Nomura Risa
    • Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    • Akashi Takumi
    • Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan
    • Mizutani Shuki
    • Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    • Kashimada Kenichi
    • Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    • Miyai Kentaro
    • Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    • Okada Michiyo
    • Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
    • Kajiwara Michiko
    • Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    • Ono Makoto
    • Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
    • Ogata Tsutomu
    • 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
    • Onishi Iichiro
    • Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan
    • Sato Mana
    • Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan
    • Sekine Masaki
    • Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan

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.

Journal

  • Clinical Pediatric Endocrinology

    Clinical Pediatric Endocrinology 24(1), 11-14, 2015

    The Japanese Society for Pediatric Endocrinology

Codes

  • NII Article ID (NAID)
    130004853607
  • Text Lang
    ENG
  • ISSN
    0918-5739
  • Data Source
    J-STAGE 
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