The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development

Noriko Nishina-Uchida, Ryuji Fukuzawa, Tomohiro Ishii, Matthew R. Anaka, Tomonobu Hasegawa, Yukihiro Hasegawa

Research output: Contribution to journalArticle


Individuals with a 46,XX/46,XY karyotype are categorized as ovotesticular disorder of sexual development (ODSD) and have gonads with either an ovary on one side and a testis on the other side or a mixed ovotestis. To examine the distribution of 46,XX and 46,XY cells in gonads of 3 patients with ODSD, FISH for X and Y chromosomes and immunohistochemistry for SOX9 and FOXL2 were carried out. FISH analysis showed that XX signals were present in Sertoli cells in the seminiferous tubules, while cells containing Y signals were seen in epithelia of ovarian follicles. The immunolabeling of SOX9 and FOXL2 in the seminiferous tubules and ovarian follicles was mutually exclusive, irrespective of the presence of reversed sex chromosomes. We therefore suggest that the fate of individual gonadal epithelial cells is determined not only by the sex chromosomes but also by local environmental factors.

Original languageEnglish
Pages (from-to)185-190
Number of pages6
JournalSexual Development
Publication statusAccepted/In press - 2016 Sep 21



  • Dysgenetic testis
  • FOXL2
  • Ovotesticular disorder of sexual development
  • SOX9
  • True hermaphroditism

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Embryology
  • Developmental Biology

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