Ovotesticular disorder of sex development: bilateral ovotestes (clinical case)

Cover Page

Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription Access

Abstract

Ovotesticular disorder of sex development (true hermaphroditism) is a rare form of sex development disorder, accounting for less than 10% of all cases. This condition is characterized by the simultaneous presence of both ovarian and testicular tissue, regardless of karyotype.

This article presents a clinical case of a 61-year-old female patient diagnosed with a disorder of sex development for the first time. During a routine outpatient ultrasound examination, the ovaries appeared enlarged with active blood flow, which was disproportionate to the patient’s age and postmenopausal status. The uterus and cervix were absent. The patient reported primary amenorrhea, no history of pregnancies, and an active sexual life since the age of 20. She had been married since the age of 25 and had never sought medical advice regarding infertility or amenorrhea. Further genetic and cytogenetic analysis revealed a 46,XY karyotype, associated with a high risk of gonadal malignancy. Bilateral adnexectomy was performed. Histological examination confirmed the presence of both ovarian and testicular tissue in the gonads, consistent with a diagnosis of ovotesticular disorder of sex development with bilateral ovotestes. In cases with a 46,XY karyotype, bilateral adnexectomy is indicated due to the significant risk of malignancy.

About the authors

Natalia E. Levchenko

The First Sechenov Moscow State Medical University

Email: levchenko_n_e@staff.sechenov.ru
ORCID iD: 0009-0003-6056-1838
SPIN-code: 9905-3077

MD, Dr. Sci. (Medicine), Professor

Russian Federation, 8 Trubetskaya st, bldg 2, Moscow, 119991

Olga A. Anurova

National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov

Email: anurovao@mail.ru
ORCID iD: 0000-0003-2547-4846

MD, Cand. Sci. (Medicine), Assistant Professor

Russian Federation, Moscow

Tamara V. Filippova

The First Sechenov Moscow State Medical University

Email: filippova_t_v@staff.sechenov.ru
ORCID iD: 0000-0002-6812-9615
SPIN-code: 7206-6947

MD, Dr. Sci. (Medicine), Professor

Russian Federation, 8 Trubetskaya st, bldg 2, Moscow, 119991

Maria M. Litvinova

The First Sechenov Moscow State Medical University

Email: Litvinova_m_m@staff.sechenov.ru
ORCID iD: 0000-0002-1863-3768
SPIN-code: 3771-4894

MD, Cand. Sci. (Medicine), Assistant Professor

Russian Federation, 8 Trubetskaya st, bldg 2, Moscow, 119991

Ekaterina V. Slukhanchuk

The First Sechenov Moscow State Medical University

Email: ekaterina@ginekologhirurg.ru
ORCID iD: 0000-0001-7441-2778
SPIN-code: 7423-8944

MD, Cand. Sci. (Medicine), Assistant Professor

Russian Federation, 8 Trubetskaya st, bldg 2, Moscow, 119991

Fеdor D. Tkachenko

The First Sechenov Moscow State Medical University

Email: tckachencko.fyodor2016@yandex.ru
ORCID iD: 0009-0009-6219-844X

Student

Russian Federation, 8 Trubetskaya st, bldg 2, Moscow, 119991

Alina V. Rubashchenko

The First Sechenov Moscow State Medical University

Author for correspondence.
Email: rubaline@yandex.ru
ORCID iD: 0009-0004-9505-5772

Student

Russian Federation, 8 Trubetskaya st, bldg 2, Moscow, 119991

References

  1. Hughes IA, Houk C, Ahmed SF, et al. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006;2(3):148–162. doi: 10.1016/j.jpurol.2006.03.004
  2. Diamond DA, Yu RN. Sexual differentiation: normal and abnormal. In: Wein AJ, Kavoussi LR, Novick AC, et al, editors. Campbell-Walsh urology. Philadelphia, PA: Elsevier; 2014. P. 3613–3614.
  3. Blackless M, Charuvastra A, Derryck A, et al. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol. 2000;12(2):151–166. doi: 10.1002/(SICI)1520-6300(200003/04)12:2<151::AID-AJHB1>3.0.CO;2-F
  4. Krstić ZD, Smoljanić Z, Vukanić D, et al. True hermaphroditism: 10 years’ experience. Pediatr Surg Int. 2000;16(8):580–583. doi: 10.1007/s003830000415
  5. Krob G, Braun A, Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr. 1994;153(1):2–10. doi: 10.1007/BF02000779
  6. Sultan C, Paris F, Jeandel C, et al. Ambiguous genitalia in the newborn. Semin Reprod Med. 2002;20(3):181–188. doi: 10.1055/s-2002-35382
  7. Iqbal MZ, Jam MR, Saleem M, Ahmad M. True hermaphrodite: a case report. APSP J Case Rep. 2011;2(2):16.
  8. Hughes W, Erickson CC, Fleischmann W, Etteldorf JN. True hermaphroditism; report of a case. J Pediatr. 1958;52(6):662–669. doi: 10.1016/s0022-3476(58)80264-4
  9. Mao Y, Chen S, Wang R, et al. Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) — experience based on a Chinese series. BMC Urol. 2017;17(1):21. doi: 10.1186/s12894-017-0212-8
  10. Ganie Y, Aldous C, Balakrishna Y, Wiersma R. The spectrum of ovotesticular disorders of sex development in South Africa: a single-centre experience. Horm Res Paediatr. 2017;87(5):307–314. doi: 10.1159/000466693
  11. Ganie Y, Aldous C, Balakrishna Y, Wiersma R. Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre. J Pediatr Endocrinol Metab. 2017;30(1):11–18. doi: 10.1515/jpem-2016-0152
  12. Vilain E. The genetics of ovotesticular disorders of sex development. Adv Exp Med Biol. 2011;707:105–106. doi: 10.1007/978-1-4419-8002-1_22
  13. Bayraktar Z. Potential autofertility in true hermaphrodites. J Matern Fetal Neonatal Med. 2018;31(4):542–547. doi: 10.1080/14767058.2017.1291619
  14. Queipo G, Zenteno JC, Peña R, et al. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet. 2002;111(3):278–283. doi: 10.1007/s00439-002-0772-9
  15. Pleskacova J, Hersmus R, Oosterhuis JW, et al. Tumor risk in disorders of sex development. Sex Dev. 2010;4(4-5):259–269. doi: 10.1159/000314536
  16. Abaci A, Çatli G, Berberoğlu M. Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development. J Pediatr Endocrinol Metab. 2015;28(9-10):1019–1027. doi: 10.1515/jpem-2014-0522
  17. Sircili MH, Denes FT, Costa EM, et al. Long-term followup of a large cohort of patients with ovotesticular disorder of sex development. J Urol. 2014;191(5 Suppl):1532–1536. doi: 10.1016/j.juro.2013.10.037
  18. Khare M, Gupta MK, Airun A, et al. A case of true hemaphroditism presenting with dysgerminoma. J Clin Diagn Res. 2017;11(11):ED07–ED09. doi: 10.7860/JCDR/2017/31134/10911
  19. Chen CQ, Liu Z, Lu YS, et al. True hermaphroditism with dysgerminoma: a case report. Medicine (Baltimore). 2020;99(22):e20472. doi: 10.1097/MD.0000000000020472
  20. Meenal B, Meenakshi G, Pratibha S, et al. 46 XY ovotesticular disorder: a rare case report with review of literature. Gynecol Minim Invasive Ther. 2021;10(3):171–173. doi: 10.4103/GMIT.GMIT_107_19

Supplementary files

Supplementary Files
Action
1. JATS XML
Download
2. Fig. 2. Right uterine appendages. Fragments of the gonad - ovotestis, consisting of a predominantly testicular part (A), lobular structure and ovarian stroma (B), enclosed in a wide protein coat (C). Hematoxylin and eosin staining, ×800

Download (211KB)
Indexing metadata
3. Fig. 3. Ovarian part of the gonad – ovotestis, consisting of fibroblasts. Hematoxylin and eosin staining, ×60

Download (515KB)
Indexing metadata
4. Fig. 4. The testicular part of the gonad - the ovotestis, consisting of tubules lined with Sertoli cells without atypia and without spermatogenesis and areas of Leydig cells. Hematoxylin and eosin staining, ×60

Download (571KB)
Indexing metadata
5. Fig. 5. Right fallopian tube with signs of hypoplasia in the form of a polycystic formation lined with single-row flattened tubal epithelium. Hematoxylin and eosin staining, ×6

Download (117KB)
Indexing metadata
6. Fig. 6. Left uterine appendages. Fragments of the gonad - ovotestis, consisting of a predominantly testicular part of lobular structure and ovarian stroma, enclosed in a wide protein coat. Hematoxylin and eosin staining, ×6

Download (170KB)
Indexing metadata
7. Fig. 7. Ovarian part of the gonad - ovotestis, consisting of fibroblasts with the presence of Leydig cell clusters at the border with the testicular part. Hematoxylin and eosin staining, ×60

Download (458KB)
Indexing metadata
8. Fig. 8. The testicular part of the gonad, the ovotestis, consisting of tubules lined with Sertoli cells without atypia and without spermatogenesis (A), surrounded by Leydig cells (B). Hematoxylin and eosin staining, ×200, 60

Download (587KB)
Indexing metadata
9. Fig. 9. Left fallopian tube with signs of hypoplasia in the form of a cystic formation lined with single-row tubular epithelium with single epithelial outgrowths. Hematoxylin and eosin staining, ×200, 60

Download (192KB)
Indexing metadata
10. Fig. 1. Patient’s Pedigree

Download (104KB)
Indexing metadata
11. Fig. 10. Types of ovotestes

Download (58KB)
Indexing metadata

Copyright (c) 2025 Eco-Vector

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Согласие на обработку персональных данных

 

Используя сайт https://journals.rcsi.science, я (далее – «Пользователь» или «Субъект персональных данных») даю согласие на обработку персональных данных на этом сайте (текст Согласия) и на обработку персональных данных с помощью сервиса «Яндекс.Метрика» (текст Согласия).