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

doi:10.1159/000448677

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 journal › Article › peer-review

1 Citation (Scopus)

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.

Original language	English
Pages (from-to)	185-190
Number of pages	6
Journal	Sexual Development
Volume	10
Issue number	4
DOIs	https://doi.org/10.1159/000448677
Publication status	Published - 2016 Oct 1

Keywords

Dysgenetic testis
FOXL2
Ovotesticular disorder of sexual development
SOX9
True hermaphroditism

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Embryology
Developmental Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1159/000448677

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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.",

keywords = "Dysgenetic testis, FOXL2, Ovotesticular disorder of sexual development, SOX9, True hermaphroditism",

author = "Noriko Nishina-Uchida and Ryuji Fukuzawa and Tomohiro Ishii and Anaka, {Matthew R.} and Tomonobu Hasegawa and Yukihiro Hasegawa",

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AU - Nishina-Uchida, Noriko

AU - Fukuzawa, Ryuji

AU - Ishii, Tomohiro

AU - Anaka, Matthew R.

AU - Hasegawa, Tomonobu

AU - Hasegawa, Yukihiro

PY - 2016/10/1

Y1 - 2016/10/1

N2 - 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.

AB - 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.

KW - Dysgenetic testis

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KW - Ovotesticular disorder of sexual development

KW - SOX9

KW - True hermaphroditism

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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