Ovotesticular Disorder of Sexual Development Treatment & Management

  • Author: Molina B Dayal, MD, MPH; Chief Editor: Richard Scott Lucidi, MD   more...
 
Updated: Jan 10, 2012
 

Medical Care

Sex hormone replacement might be required for those with pubertal delay.

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Surgical Care

With the exception of 46,XX individuals with CAH or documented maternal androgen excess, most patients with genital ambiguity require surgical exploration for diagnostic confirmation and removal of contradictory gonadal tissue. This should be performed to allow for maximal gender-specific development and to increase fertility potential. Ovotesticular disorder of sexual development can only be confirmed with gonadal biopsy results.

Indications for surgery include biopsy of the gonads for histologic confirmation, removal of intra-abdominal testis or streak gonads with Y chromosome-DNA (because of their increased malignant potential), removal of wolffian structures and testicular tissue if the patient has been given a female gender assignment, removal of müllerian structures and ovarian tissue if the patient has been given a male gender assignment, and orchiopexy to reposition a maldescended testis in a patient with male gender assignment.

Ovotestes frequently can be separated into ovarian and testicular components using frozen sections to define clear margins. Conservative gonadal surgery is the procedure of choice. This approach entails partial resection of ovotestes guided by intraoperative histologic examination. It allows preservation of gonadal tissue concordant with sex of rearing, and removal of all discordant tissue. An ovarian segment can be preserved in people who are given a female sex assignment. Frequently, these segments demonstrate normal ovarian function and confer potential for reproduction.

Clitoral recession, vaginoplasty, and labioscrotal reduction are necessary for people with ovotesticular disorder of sexual development who are given a female sex assignment. Ideally, this should occur at age 3-6 months. For feminizing procedures, clitoral reduction and perineoplasty should be performed as early as possible as a 1-stage procedure. Follow-up procedures, such as reconstruction of the clitoral hood, repositioning of the urethral meatus, and widening of the vagina with vaginal dilators, are common and are often performed after puberty. Masculinizing genitoplasty consists of correction of the penile curvature and repositioning of the urethral meatus, also in a 1-stage procedure. Follow-up surgery may be required if fistulas form or if grafts are used.

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Consultations

Because of the complexities surrounding gender assignment/reassignment, use of an experienced team is the best approach. The decision of when and if to perform surgery is controversial. Many patients have expressed the sentiment that decisions concerning surgery on the external genitalia should not be made without the understanding and consent of the affected person. Because of the complexity and ramifications of this decision, the clinician must approach the issue in concert with the family in a compassionate and thoughtful manner.

Members should represent expertise in gynecologic and urologic surgery, reproductive endocrinology, pediatrics, and psychiatry. All should be comfortable with the gender assignment decision, which depends on the diagnostic evaluation results. Gender assignment in the newborn period should be based on the individual's potential for normal sexual function and the potential for future reproductive function. Because most cases of ovotesticular disorder of development are diagnosed during the adolescent period, gender is usually not reassigned. Rather, surgery is performed to conform to the patient's preestablished gender. Most maintain a male sexual assignment, although male reproductive potential in these individuals is rare. Identity and self-esteem issues in this age group make psychological support of utmost importance.

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Contributor Information and Disclosures
Author

Molina B Dayal, MD, MPH  Associate Professor, Medical Director of Egg Donation Program, Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Medical Faculty Associates, George Washington University School of Medicine

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

Disclosure: Nothing to disclose.

Coauthor(s)

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 and American Medical Association

Disclosure: Nothing to disclose.

Chief Editor

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

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

Disclosure: Nothing to disclose.

Additional Contributors

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

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This histologic section of an ovotestis demonstrates both seminiferous tubules and ovarian follicles.
 
 
 
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