Transition to Adult Care in Persons With Disorders of Sexual Development: The Role of the Gynecologist

Obtaining and Sharing Medical Records

Ideally, the pediatric and adult providers will communicate about the patient, and the gynecologist will obtain detailed medical records to review. Medical records should include operative reports, genetic testing, laboratory testing, pathology reports, radiology imaging of sex organs and bone density, clinic notes on hormone treatments, and psychological evaluations. Time should be set aside to share and explain these records with the patient so she can better understand her condition and her previous care.

Assessing Knowledge and Disclosure

Gynecologists should not assume that there has been adequate preparation to help the adolescent transition to independent adult care.² Due to the complex nature of DSD as well as the possibility of incomplete explanation from both parents and clinicians, a patient may have limited knowledge of her condition.³ Thus, during the initial visit, the patient should be asked to explain her understanding of her diagnosis, what treatments she has received, and her understanding of her adult care needs.

The American Medical Association has rejected the premise that physicians do not need to disclose conditions that they judge may cause psychological distress and states that it is unethical for physicians to withhold information from their patients.⁴ As soon as the physician identifies that a patient does not have full information or understanding about her condition, a plan for disclosure should be put in place. Gradual and sensitive education of the patient is likely to be more beneficial than abrupt discovery at an advanced age.⁵ Physicians can best explain the underlying conditions by avoiding medical jargon, and explaining the action of chromosomes, hormones and structures. Furthermore, it is important to note that terminology such as “blind” vagina, “pseudohermaphrodism” and “phallic structure” can be confusing and hurtful to patients.

Respect for autonomy

Patients with complex DSD conditions may have relied on their parents for decision-making and assistance with medication compliance prior to transition to adult care.³ Furthermore, patients may have had negative experiences (potentially due to multiple genital exams, lack of disclosure, or conflicts regarding compliance) and consequently may find it difficult to trust care providers. The gynecologist needs to be patient and take into consideration the patient’s motivations for clinic visits. She should be reassured that pelvic examination will only be performed if there is medical benefit to her care and with her consent, particularly if other physicians are to be present.

Developing a care team network

A DSD multidisciplinary team may be available in pediatric settings, but there are few adult centers; and patients often choose to seek care closer to home.⁶ Women often visit their gynecologists for primary care, reproductive health issues, and for assistance coordinating care with other specialists. Centers which offer multidisciplinary DSD care such as those participating in the NIH funded DSD-Translational Research Network (DSD-TRN) can serve as resources for local physicians. (https://dsdtrn.genetics.ucla.edu/aboutdsdtrn).

Gender expression and identity

For patients with atypical genitalia identified at birth, gender assignment is currently based on the underlying diagnosis, genital appearance, potential for fertility, potential for gonadal hormone production, possible reconstructive procedures, and family beliefs and culture.¹ Female individuals with higher levels of presumed prenatal androgen exposure may demonstrate gender nonconforming behavior, but most individuals with DSD conditions identify with their assigned gender of rearing. They may, however, have higher rates of gender dysphoria compared to the general population.¹⁰ It is important to allow the patient to consider gender in her own terms and decide for herself what the DSD means to her: whether she wants to identify herself as an intersex person, a woman through an alternate pathway, or a person with a specific DSD condition. For the purpose of this review, we refer to the patient seeking care from the gynecologist as “she,” however this does not imply that your patient will identify strictly as such.

Sexual attraction and orientation

Gender identity (the gender the patient feels herself to be) is distinct and independent from sexual orientation (the sex to whom one is sexually and romantically attracted). Some DSD conditions are associated with increased bisexual and homosexual attraction.¹¹

Malignancy

In women with 46,XY DSD, there is a condition-specific risk of developing gonadal tumors which include seminoma, dysgerminoma and gonadoblastoma. ¹² Absolute risks of malignancy are unknown due to the nature of small retrospective studies and high rates of prophylactic gonadectomy.¹³ Ultrasound, MRI, gonadal biopsy and tumor markers have been employed to monitor in-situ gonads but there is currently no evidence-based protocol. Pap screening is not recommended for patients born without a cervix, but monitoring the vagina with visual inspection and biopsy of suspicious lesions is appropriate, particularly in patients experiencing bleeding, pain or unusual discharge.^14,15 All patients, with or without a cervix, should be offered the HPV vaccination due to risk of dysplasia and sexually transmitted infections.¹⁶

Hypogonadism and Hormone Replacement

In the patient with gonadal insufficiency or post gonadectomy, long term sex steroid replacement is essential to avoid known risks of hypogonadism. Young individuals with DSD are at very high risk of osteoporosis, and those with complete androgen insensitivity, congenital adrenal hyperplasia or hypogonadism may begin monitoring bone density in late adolescence.¹⁷ It is important to note that sex hormone replacement in these patients is different than in post-menopausal women and higher doses may be required.

Genital Function and sexual experience

Currently, there is controversy over the timing for surgical interventions and some families opt to delay surgery until their child can mature, express gender identity, understand the nature of the operation, and give informed assent or consent for the procedure.¹⁸ The gynecologist must be prepared to manage prior operative interventions and assist with decisions moving forward. Women with these conditions may have atypical appearing external genitalia even after repair, and it is important that the gynecologist avoid statements that may lead to additional anxiety and body dysmorphia. Furthermore, although they directly affect intimacy and sexual experience, there is a paucity of data addressing long-term outcomes of vaginal elongation or reconstructive procedures, and routine care needs to address sexual fear, dyspareunia, arousal, lubrication, and orgasm. ^19,20 Individuals with DSD may experience anxiety about sexual function and fear of intimacy and many may delay sexual experiences into adulthood.^21,22 The gynecologist is in a unique position to address these issues and should offer psychological support and sex therapy where available.

Primary perineal dilation is considered the least invasive and safest method for vaginal elongation in patients with a shortened vagina due to their underlying condition and the gynecologist may need to assist with the dilation process.¹⁴ Women do not necessarily require vaginal elongation for their well-being, thus a patient should guide the decision of whether or not she desires to have penetrative intercourse as well as when she is ready to proceed. Working with a local physical therapist who provides care for women with pelvic floor dysfunction or pain may be helpful; direct communication may improve the therapists’ understanding of the condition and goals of treatment. Providers should understand that the vagina created through perineal dilation may function well during intercourse but may not be as deep as expected.

Surgery

Given the high risk of complications, referral to a center with expertise is recommended for surgical management of these conditions.

Fertility

Although many DSD conditions are associated with infertility, pregnancy may occur with some conditions. Gynecologists must know gonadal type, function and internal anatomy to assess the need for contraception and discuss fertility options. Finally, the underlying genetic diagnosis needs to be discussed as it may affect offspring.

Genetics

With advances in genetic and hormonal testing, individuals without a clear etiology for their condition may be interested in further evaluation.²⁷ Referral to a geneticist with experience with DSD conditions should be encouraged.