title: The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development.
abstract: 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.
authors.affiliation: Molecular and Developmental Pathology Research Group, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Nishina-Uchida
authors.forename: Ryuji
authors.initials: R
authors.lastname: Fukuzawa
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Ishii
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Anaka
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Hasegawa
mesh_terms: D002675:Child, Preschool; D005260:Female; D000074842:Forkhead Box Protein L2 / Q000235:genetics / Q000378:metabolism; D006066:Gonads / Q000378:metabolism* / Q000502:physiology; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D059785:Karyotype; D008297:Male; D006080:Ovarian Follicle / Q000378:metabolism / Q000502:physiology; D010053:Ovary / Q000378:metabolism / Q000502:physiology; D050090:Ovotesticular Disorders of Sex Development / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology*; D055758:SOX9 Transcription Factor / Q000378:metabolism; D012671:Seminiferous Tubules / Q000378:metabolism / Q000502:physiology; D013737:Testis / Q000378:metabolism* / Q000502:physiology; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors