Differential Diagnoses

5-alpha reductase deficiency
Complete or partial androgen insensitivity syndrome
Congenital adrenogenital syndrome (ie, CAH)
Enzymatic defects in testosterone synthesis (ie, 5-alpha reductase deficiency)
Excess maternal androgen production (ie, maternal adrenocortical tumor)
Gonadal dysgenesis
Maternal androgen ingestion

Workup

De Jesus Escano MR, Mejia Sang ME, Reyes-Mugica M, Colaco M, Fox J. Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic. Cureus. 2021 Oct. 13 (10):e18512. [QxMD MEDLINE Link].
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 Mar. 46(2):191-3. [QxMD MEDLINE Link].
Özdemir M, Kavak RP, Yalcinkaya I, Guresci K. Ovotesticular disorder of sex development: an unusual presentation. J Clin Imaging Sci. 2019. 9:34. [QxMD MEDLINE Link]. [Full Text].
Sanlaville D, Vialard F, Thepot F, et al. Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). Am J Med Genet A. 2004 Jul 30. 128(3):325-30. [QxMD MEDLINE Link].
Josso N, Audi L, Shaw G. Regional variations in the management of testicular or ovotesticular disorders of sex development. Sex Dev. 2011. 5(5):225-34. [QxMD MEDLINE Link].
Sugawara N, Tokunaga Y, Maeda M, et al. A successful pregnancy outcome using frozen testicular sperm from a chimeric infertile male with a 46, XX/46, XY karyotype: case report. Hum Reprod. 2005 Jan. 20(1):147-8. [QxMD MEDLINE Link].
Schultz BA, Roberts S, Rodgers A, Ataya K. Pregnancy in true hermaphrodites and all male offspring to date. Obstet Gynecol. 2009 Feb. 113(2 Pt 2):534-6. [QxMD MEDLINE Link].
Kousta E, Papathanasiou A, Skordis N. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals. Hormones (Athens). 2010 Jul-Sep. 9(3):218-131. [QxMD MEDLINE Link].
Matsuda S, Kuwabara Y, Kato R, et al. Successful in vitro fertilization pregnancy and delivery in an infertile patient with ovotesticular disorder of sex development: a case report. J Nippon Med Sch. 2022 Jan 25. [QxMD MEDLINE Link].
Sircili MH, Denes FT, Costa EM, Machado MG, Inacio M, Silva RB, et al. Long-term followup of a large cohort of patients with ovotesticular disorder of sex development. J Urol. 2014 May. 191(5 Suppl):1532-6. [QxMD MEDLINE Link].
Kasami M, Yoshida M, Isogaki J, et al. Bilateral breast tumors, malignant phyllodes tumor and invasive lobular carcinoma in a 46,XX/46,XY mosaic female with family history of breast cancer. Pathol Int. 1997 Feb-Mar. 47(2-3):147-54. [QxMD MEDLINE Link].
Chaudhury P, Majmudar B, Moller KA. Invasive squamous cell carcinoma of the vagina in the setting of true hermaphroditism. Gynecol Oncol. 2006 Jan. 100(1):210-2. [QxMD MEDLINE Link].
Matsui F, Shimada K, Matsumoto F, Itesako T, Nara K, Ida S, et al. Long-term outcome of ovotesticular disorder of sex development: a single center experience. Int J Urol. 2011 Mar. 18(3):231-6. [QxMD MEDLINE Link].
Selver Eklioglu B, Atabek ME, Akyurek N, Ari Yuca S, Piskin M. The 46XX Ovotesticular Disorders of Sexual Development with Dismorphic Features. J Pediatr Adolesc Gynecol. 2015 Dec. 28 (6):e157-9. [QxMD MEDLINE Link].
Ouhilal S, Turco J, Nangia A, et al. True hermaphroditism presenting as bilateral gynecomastia in an adolescent phenotypic male. Fertil Steril. 2005 Apr. 83(4):1041. [QxMD MEDLINE Link].
Chen CP, Chern SR, Sheu JC, et al. Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera. Prenat Diagn. 2005 Jun. 25(6):502-6. [QxMD MEDLINE Link].
Verkauskas G, Jaubert F, Lortat-Jacob S, Malan V, Thibaud E, Nihoul-Fékété C. The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery. J Urol. 2007 Feb. 177(2):726-31; discussion 731. [QxMD MEDLINE Link].
Abbas NE, Toublanc JE, Boucekkine C, et al. A possible common origin of "Y-negative" human XX males and XX true hermaphrodites. Hum Genet. 1990 Mar. 84(4):356-60. [QxMD MEDLINE Link].
Ablett MJ, Masters J, Elliott ST. Case report: A rapidly expanding testicular mass due to a ruptured ovarian follicle. Br J Radiol. 1996 Apr. 69(820):366-7. [QxMD MEDLINE Link].
al Jurayyan NA, Patel PJ, al Herbish AS, et al. Ambiguous genitalia: comparative role of pelvic ultrasonography and genitography. Ann Trop Paediatr. 1995 Sep. 15(3):203-7. [QxMD MEDLINE Link].
Almaguer MC, Saenger P, Linder BL. Phallic growth after hCG. A clinical index of androgen responsiveness. Clin Pediatr (Phila). 1993 Jun. 32(6):329-33. [QxMD MEDLINE Link].
Bercovici JP, Nahoul K, Maudelonde T, et al. Plasma androgens during the luteal phase in a case of true hermaphroditism with bilateral ovotestis. J Steroid Biochem. 1985 May. 22(5):631-4. [QxMD MEDLINE Link].
Bergmann M, Schleicher G, Bocker R, Nieschlag E. True hermaphroditism with bilateral ovotestis: a case report. Int J Androl. 1989 Apr. 12(2):139-47. [QxMD MEDLINE Link].
Berkovitz GD, Fechner PY, Marcantonio SM, et al. The role of the sex determining region of the X chromosome (SRY) in the etiology of 46XX true hermaphroditism. Hum Genet. 1992. 88:411.
Berkovitz GD, Fechner PY, Zacur HW, et al. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine (Baltimore). 1991 Nov. 70(6):375-83. [QxMD MEDLINE Link].

Media Gallery

MRI demonstrating uterus and vagina in a 46XY infant. Courtesy of BMC Springer Nature [Scarpa MG, Lesma A, Di Grazia M, et al. Ovotesticular differences of sex development: male or female? Case series. Italian Journal of Pediatrics. 30 May 2019; 45;66. Online at https://ijponline.biomedcentral.com/articles/10.1186/s13052-019-0660-8].
Intraoperative finding of uterus, fallopian tube, and streak gonad in 46XY infant. Courtesy of BMC Springer Nature [Scarpa MG, Lesma A, Di Grazia M, et al. Ovotesticular differences of sex development: male or female? Case series. Italian Journal of Pediatrics. 30 May 2019; 45;66. Online at https://ijponline.biomedcentral.com/articles/10.1186/s13052-019-0660-8].
H&E stain of ovotestis demonstrating ovarian parenchyma (left) with multiple primary follicles and testicular parenchyma (right). Courtesy of Cureus [De Jesus Escano MR, Mejia Sang ME, Reyes-Mugica M, Colaco M, Fox J. Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic. Case Report. Cureus. Published 5 Oct 2021. Online at https://www.cureus.com/articles/70052-ovotesticular-disorder-of-sex-development-approach-and-management-of-an-index-case-in-the-dominican-republic].

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Author

Molina B Dayal, MD, MPH Medical Director, STL Fertility, LLC

Molina B Dayal, MD, MPH is a member of the following medical societies: American College of Obstetricians and Gynecologists, American Society for Reproductive Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

Alexa M Chanos, MD Resident Physician, Department of Obstetrics and Gynecology, Mercy Hospital St Louis

Disclosure: Nothing to disclose.

Morgan Elizabeth Miller, MD Resident Physician, Department of Obstetrics and Gynecology, Mercy Hospital St Louis

Morgan Elizabeth Miller, MD is a member of the following medical societies: American College of Obstetricians and Gynecologists, American Medical Association, Medical Students For Choice

Disclosure: Nothing to disclose.

Chief Editor

Richard Scott Lucidi, MD, FACOG Associate Professor of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Virginia Commonwealth University School of Medicine

Richard Scott Lucidi, MD, FACOG is a member of the following medical societies: American College of Obstetricians and Gynecologists, American Society for Reproductive Medicine

Disclosure: Nothing to disclose.

Additional Contributors

Candice B O'Hern, MD Resident Physician, Department of Obstetrics and Gynecology, George Washington University Hospital

Candice B O'Hern, MD is a member of the following medical societies: American College of Obstetricians and Gynecologists, American Medical Association

Disclosure: Nothing to disclose.

Acknowledgements

A David Barnes, MD, PhD, MPH, FACOG Consulting Staff, Department of Obstetrics and Gynecology, Mammoth Hospital (Mammoth Lakes, California), Pioneer Valley Hospital (Salt Lake City, Utah), Warren General Hospital (Warren, Pennsylvania), and Mountain West Hospital (Tooele, Utah)

A David Barnes, MD, PhD, MPH, FACOG is a member of the following medical societies: American College of Forensic Examiners, American College of Obstetricians and Gynecologists, American Medical Association, Association of Military Surgeons of the US, and Utah Medical Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

Sections Ovotesticular Disorder of Sexual Development
Overview
Presentation
DDx
Workup
Treatment
Media Gallery
References

Ovotesticular Disorder of Sexual Development Differential Diagnoses

Differential Diagnoses

References

Tables

Contributor Information and Disclosures

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