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Late Diagnosis of Ovotesticular Disorders of Sexual Development: A Case Report and Literature Review

Received: 18 October 2023    Accepted: 3 November 2023    Published: 11 November 2023
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Abstract

Background: Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. Ovotesticular disorders of sexual development formerly called true hermaphroditism are the rarest of all types of disorders of sexual development. It refers to individuals who have both ovarian and testicular tissues in the same or contralateral gonad, regardless of their karyotype. Case presentation: Ovotesticular DSDs are usually diagnosed in the pediatric age group. We reported a rare case of ovotesticular DSD in an adult, originally assigned as male gender. He was referred to our service with the complaint of difficulty with sexual intercourse and genital ambiguity. On examination, he was found to have gynecomastia, a female pelvic, a left testicle, micropenis, and proximal hypospadias. A total abdominal hysterectomy with penile reconstruction and left orchidopexy was performed. Hypospadias repair was planned to be done later. We aim to highlight the challenges urologists practising in a poor-resource community face in diagnosing and managing of these cases. Conclusions: Ovotesticular DSD is rare. Diagnosis is usually made clinically supported by laboratory, imaging and histological evaluation. Treatment consists of multidisciplinary management including urologists, gynaecologists, endocrinologists, paediatricians, and psychiatrists. It is important to involve the patient and their family in shared decision-making before surgery or gender assignment.

Published in International Journal of Clinical Urology (Volume 7, Issue 2)
DOI 10.11648/j.ijcu.20230702.18
Page(s) 61-64
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Ovotesticular, Disorders of Sexual Development, Hypospadias, Karyotype

References
[1] Hughes IA. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab. 2008; 22: 119-34.
[2] MacLaughlin, D. T., Donahoe, P. K. Sex determination and differentiation. N. Engl. J. Med. 2004; 350: 367-78.
[3] Eiji Hisamatsu Nakagawa Y, and Sugita Y. Two Cases of Late-Diagnosed Ovotesticular Disorder of Sex Development. APSP J Case Rep. 2013; 4 (3): 40.
[4] Houk CP, Hughes LA, Ahmed SF, Peter A Lee PA, et al. Summary of Consensus Statement on Intersex Disorders and Their Management. International Intersex Consensus Conference. Paediatrics. 2006; 118 (2): 753-7.
[5] Parliamentary Assembly, Council of Europe. Promoting the human rights of and eliminating discrimination against intersex people. 2017.
[6] Jyothi GA, Waghray N. A case report on ovotesticular DSD. Apollo Medicine. 2016; 13 (1): 49-51.
[7] DaryantoB, NaimHY. A case report: 46, XX ovotesticular DSD. The Pan African Medical Journal. 2018; 31 (Supp 1): 10.
[8] Dutta D, Shivaprasad KS, Das RN, Ghosh S, Chatterjee U, Chowdhury S et al. Ovotesticular disorder of sexual development due to 47, XYY/46, XY/45, X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes. Andrologia. 2014; 46 (2): 191-3.
[9] Sircili MH, Denes FT, Costa EM, Machado MG, Inacio M, Silva RB, et al. Long-term follow-up of a large cohort of patients with ovotesticular disorder of sex development. J Urol. 2014; 191 (5 Suppl): 1532-6.
[10] Kilberg MJ, McLoughlin M, Pyle LC, Vogiatzi MG. Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature. Pediatr Endocrinol Rev. 2019; 17 (2), 110-116.
[11] Matsui F, Shimada K, Matsumoto F, Itesako T, Nara K, Ida S, Nakayama M. Long-term outcome of ovotesticular disorder of sex development: a single centre experience. Int J Urol. 2011; 18: 231-236.
[12] Wolffenbuttel, KP, Hersmus R, Stoop H, Biermann K, Hoebeke P, Cools M, et al. Gonadal dysgenesis in disorders of sex development: Diagnosis andsurgical management. J Pediatr Urol; 2016. 12: 411.
[13] Cox MJ, Coplen DE, Austin PF. The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. J Urol. 2008; 180: 2649–52.
[14] Mouriquand PDE, Brindusa Gorduza D, Gay CL, Meyer-Bahlburg HFL, Baskin LS, et al. Surgery in disorders of sex development (DSD) with a gender issue: if (why); when, and how? J Pediatr Urol. 2016; 12: 139-49.
[15] Guerrero-Fernández J, San Julián CA, Barreiro Conde J, Bermúdez de la Vega JA, Carcavilla Urquí A, Casta˜no González LA, et al. Management guidelines for disorders/different sexdevelopment (DSD). A Pediatr (Barc). 2018; 89 (5). e1-315. e19.
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  • APA Style

    Abdoul-Karim, P., Adama, O., Delphine, Y., Boukary, K., Babagana Mustapha, A., et al. (2023). Late Diagnosis of Ovotesticular Disorders of Sexual Development: A Case Report and Literature Review. International Journal of Clinical Urology, 7(2), 61-64. https://doi.org/10.11648/j.ijcu.20230702.18

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    ACS Style

    Abdoul-Karim, P.; Adama, O.; Delphine, Y.; Boukary, K.; Babagana Mustapha, A., et al. Late Diagnosis of Ovotesticular Disorders of Sexual Development: A Case Report and Literature Review. Int. J. Clin. Urol. 2023, 7(2), 61-64. doi: 10.11648/j.ijcu.20230702.18

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    AMA Style

    Abdoul-Karim P, Adama O, Delphine Y, Boukary K, Babagana Mustapha A, et al. Late Diagnosis of Ovotesticular Disorders of Sexual Development: A Case Report and Literature Review. Int J Clin Urol. 2023;7(2):61-64. doi: 10.11648/j.ijcu.20230702.18

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  • @article{10.11648/j.ijcu.20230702.18,
      author = {Pare Abdoul-Karim and Ouattara Adama and Ye Delphine and Kabre Boukary and Abubakar Babagana Mustapha and Simpore Mohamed and Rouamba Mickael and Kabore Aristide Fasnewinde and Kambou Timothee},
      title = {Late Diagnosis of Ovotesticular Disorders of Sexual Development: A Case Report and Literature Review},
      journal = {International Journal of Clinical Urology},
      volume = {7},
      number = {2},
      pages = {61-64},
      doi = {10.11648/j.ijcu.20230702.18},
      url = {https://doi.org/10.11648/j.ijcu.20230702.18},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcu.20230702.18},
      abstract = {Background: Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. Ovotesticular disorders of sexual development formerly called true hermaphroditism are the rarest of all types of disorders of sexual development. It refers to individuals who have both ovarian and testicular tissues in the same or contralateral gonad, regardless of their karyotype. Case presentation: Ovotesticular DSDs are usually diagnosed in the pediatric age group. We reported a rare case of ovotesticular DSD in an adult, originally assigned as male gender. He was referred to our service with the complaint of difficulty with sexual intercourse and genital ambiguity. On examination, he was found to have gynecomastia, a female pelvic, a left testicle, micropenis, and proximal hypospadias. A total abdominal hysterectomy with penile reconstruction and left orchidopexy was performed. Hypospadias repair was planned to be done later. We aim to highlight the challenges urologists practising in a poor-resource community face in diagnosing and managing of these cases. Conclusions: Ovotesticular DSD is rare. Diagnosis is usually made clinically supported by laboratory, imaging and histological evaluation. Treatment consists of multidisciplinary management including urologists, gynaecologists, endocrinologists, paediatricians, and psychiatrists. It is important to involve the patient and their family in shared decision-making before surgery or gender assignment.
    },
     year = {2023}
    }
    

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  • TY  - JOUR
    T1  - Late Diagnosis of Ovotesticular Disorders of Sexual Development: A Case Report and Literature Review
    AU  - Pare Abdoul-Karim
    AU  - Ouattara Adama
    AU  - Ye Delphine
    AU  - Kabre Boukary
    AU  - Abubakar Babagana Mustapha
    AU  - Simpore Mohamed
    AU  - Rouamba Mickael
    AU  - Kabore Aristide Fasnewinde
    AU  - Kambou Timothee
    Y1  - 2023/11/11
    PY  - 2023
    N1  - https://doi.org/10.11648/j.ijcu.20230702.18
    DO  - 10.11648/j.ijcu.20230702.18
    T2  - International Journal of Clinical Urology
    JF  - International Journal of Clinical Urology
    JO  - International Journal of Clinical Urology
    SP  - 61
    EP  - 64
    PB  - Science Publishing Group
    SN  - 2640-1355
    UR  - https://doi.org/10.11648/j.ijcu.20230702.18
    AB  - Background: Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. Ovotesticular disorders of sexual development formerly called true hermaphroditism are the rarest of all types of disorders of sexual development. It refers to individuals who have both ovarian and testicular tissues in the same or contralateral gonad, regardless of their karyotype. Case presentation: Ovotesticular DSDs are usually diagnosed in the pediatric age group. We reported a rare case of ovotesticular DSD in an adult, originally assigned as male gender. He was referred to our service with the complaint of difficulty with sexual intercourse and genital ambiguity. On examination, he was found to have gynecomastia, a female pelvic, a left testicle, micropenis, and proximal hypospadias. A total abdominal hysterectomy with penile reconstruction and left orchidopexy was performed. Hypospadias repair was planned to be done later. We aim to highlight the challenges urologists practising in a poor-resource community face in diagnosing and managing of these cases. Conclusions: Ovotesticular DSD is rare. Diagnosis is usually made clinically supported by laboratory, imaging and histological evaluation. Treatment consists of multidisciplinary management including urologists, gynaecologists, endocrinologists, paediatricians, and psychiatrists. It is important to involve the patient and their family in shared decision-making before surgery or gender assignment.
    
    VL  - 7
    IS  - 2
    ER  - 

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Author Information
  • Department of Urology, Souro Sanou University Teaching Hospital, Bobo-Dioulasso, Burkina Faso

  • Department of Urology, Souro Sanou University Teaching Hospital, Bobo-Dioulasso, Burkina Faso

  • Department of Urology, Souro Sanou University Teaching Hospital, Bobo-Dioulasso, Burkina Faso

  • Department of Surgery, Regional Hospital of Tenkodogo, Tenkodogo, Burkina Faso

  • Department of Surgery, Federal Medical Center Nguru, Yobe, Nigeria

  • Department of Urology, Souro Sanou University Teaching Hospital, Bobo-Dioulasso, Burkina Faso

  • Department of Urology, Souro Sanou University Teaching Hospital, Bobo-Dioulasso, Burkina Faso

  • Department of Urology, Yalgado Ouedraogo University Teaching Hospital, Ouagadougou, Burkina Faso

  • Department of Urology, Souro Sanou University Teaching Hospital, Bobo-Dioulasso, Burkina Faso

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