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Review
. 2023 Oct 24;23(1):549.
doi: 10.1186/s12905-023-02698-1.

Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature

Koui Bbs  1 , Abouna Ad  1 , Toukilnan Djiwa  2 , Traore B  1 , Kouyate M  1 , Kouame Ke  1 , Aman Na  3
Affiliations
Review

Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature

Koui Bbs et al. BMC Womens Health. .

Abstract

Introduction: Ovotestis is a rare cause of sexual ambiguity characterized by the presence in a patient of both testicular and ovarian tissue, leading to the development of both male and female structures. We report a case of ovotestis diagnosed in an adolescent, with a review of the literature.

Case report: A 15-year-old patient presented with a right scrotal swelling associated with gynecomastia. Histology showed a juxtaposition of ovarian stroma with ovarian follicle and seminiferous tubules. Karyotype revealed a male subject (XY). We have therefore retained the diagnosis of ovotesticular disorders of sex development.

Conclusion: Ovotestis is a rare finding, heterogeneous in its genetic etiology and clinical presentation. While many patients are diagnosed during infancy or childhood, we presented a case diagnosed in a 15-year-old adolescent.

Keywords: Adolescent; Disorders of Sex Development (DSD); Histology; Karyotype; Ovotestis.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Male subject with bilateral gynecomastia
Fig. 2
Fig. 2
Whitish multinodular areas and whitish territories surrounded by a yellowish border
Fig. 3
Fig. 3
Juxtaposition of ovarian stroma and seminiferous tubules (HESx100)
Fig. 4
Fig. 4
Ovarian tissue with a follicular cyst and an ovarian follicle (HESX100)
Fig. 5
Fig. 5
Testicular parenchyma seen at high magnification (HESX100)
See this image and copyright information in PMC

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