Approach Considerations
An interdisciplinary approach should be used in the workup and treatment of ovotesticular disorder of sexual development. Because of the complex nature of gender assignment/reassignment, an experienced team is the best approach. This team may include experts in gynecologic and urologic surgery, reproductive endocrinology, pediatrics or pediatric and adolescent gynecology, and psychiatry. Further team members may be included to address the ongoing psychosocial needs of the patient before, during, and after treatment.
Medical Care
Although 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, most cases of ovotesticular disorder of sexual development are diagnosed during the adolescent period.
Genital ambiguity in the newborn period should be viewed as a medical emergency until salt wasting adrenogenital syndrome (ie, CAH) and pituitary insufficiency have been ruled out. Supportive management must be provided for suspected salt-wasting forms of CAH and pituitary insufficiency until these potentially life-threatening conditions have been ruled out.
Sex hormone replacement might be required for those with pubertal delay.
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.
Because most cases of ovotesticular disorder of sexual development are diagnosed during adolescence, gender usually is not reassigned. Rather, surgery is performed to conform to the patient's preestablished gender. Identity and self-esteem issues in this age group make psychological support of utmost importance.
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.
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].
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.
Complications
Traditionally, complications from the surgical treatment of patients with disorders of sexual development were related to stenosis after vaginal reconstruction procedures and urinary tract problems associated with correcting severe hypospadias.
Today, patients are diagnosed and operated on earlier and tend to have fewer complications.
Gender assignment ideally should be made prior to the age of 18 months when children develop gender identity, so as to minimize psychosocial trauma.
Long-Term Monitoring
Care should be taken to continue support for patients who have been diagnosed or undergone treatment for ovotesticular disorder of sexual development. As previously mentioned, patients may need ongoing psychosocial support and should have routine follow-ups with their providers, including gynecologic or urologic surgeons, pediatricians, reproductive endocrinologists, and psychiatrists.
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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].
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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].
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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].
