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A 39,X/40,XY true hermaphrodite mouse with normal ovarian function

H Ishikawa1, K Sakurada, T Fujita

  • 1Department of Public Health, School of Medicine, Mie University, Tsu, Japan. jinishi@doc.medic.mie-u.ac.jp

Reproduction, Fertility, and Development
|January 1, 1997
PubMed
Summary

A rare cryptorchid mouse (39,X/40,XY) was found in an XO mouse colony. This mouse exhibited a small, non-spermatogenic testis and a normal, ovulating ovary, indicating potential sex reversal.

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Area of Science:

  • Genetics
  • Reproductive Biology
  • Developmental Biology

Background:

  • Sex chromosome aneuploidies, such as XO (Turner syndrome), can lead to reproductive abnormalities.
  • Understanding sex determination and differentiation in mammals is crucial for reproductive health research.
  • Mouse models are essential for studying genetic and developmental conditions affecting reproduction.

Purpose of the Study:

  • To report the identification and initial characterization of a unique cryptorchid mouse with a mixed chromosome constitution.
  • To investigate the reproductive phenotype of a 39,X/40,XY mosaic mouse.
  • To contribute to the understanding of sex reversal and gonadal development in mammals.

Main Methods:

  • Karyotyping to determine chromosome constitution.

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  • Gross examination of reproductive organs.
  • Histological assessment of gonadal tissue (implied by lack of spermatogenesis).

    • Main Results:

    • A single mouse with a 39,X/40,XY chromosome constitution was identified among 414 offspring.
    • The mouse presented with unilateral cryptorchidism (left testis) and contralateral normal ovary (right).
    • The left testis was small and lacked spermatogenesis, while the right ovary showed corpora lutea, indicating ovulation.

    Conclusions:

    • The 39,X/40,XY karyotype can result in a mosaic gonadal development with a non-functional testis and a functional ovary.
    • This case highlights the complexity of sex determination and gonadal differentiation in the presence of mixed cell populations.
    • Further research is warranted to explore the mechanisms underlying sex reversal in this specific genetic context.