Workflow for Management of Gonadal Neoplasm in 2 Patients with Differences of Sex Development Enrolled in an Experimental Gonadal Tissue Cryopreservation Protocol.

OBJECTIVE: To outline our experimental gonadal tissue cryopreservation (GTC) protocol that does not disrupt the standard of care in medically-indicated gonadectomy for patients with differences of sex development, including highlighting the multidisciplinary collaborative protocol for when neoplasm is discovered in these cases. METHODS: Two patients with complete gonadal dysgenesis who were undergoing medically-indicated prophylactic bilateral gonadectomy elected to pursue GTC. Both were found to have germ cell neoplasia in situ on initial pathologic analysis, requiring recall of the gonadal tissue, which had been cryopreserved. RESULTS: Cryopreserved gonadal tissue was successfully thawed and transferred to pathology for complete analysis. No germ cells were identified in either patient nor were found to have malignancy, so further treatment beyond gonadectomy was not indicated. Pathologic information was communicated to each family, including that long-term GTC was no longer possible. CONCLUSION: Organizational planning and coordination between the clinical care teams, GTC laboratory, and pathology were key to handling these cases with neoplasia. Processes that anticipated the possibility of discovering neoplasia within tissue sent to pathology and the potential need to recall GTC tissue to complete staging included (1) documenting the orientation and anatomical position of tissue processed for GTC, (2) defining parameters in which tissue will be recalled, (3) efficiently thawing and transferring GTC tissue to pathology, and (4) coordinating release of pathology results with verbal communication from the clinician to provide context. GTC is desired by many families and at the time of gonadectomy and is (1) feasible for patients with DSD, and (2) did not inhibit patient care in 2 patients with GCNIS.

Effect of Concurrent Gonadotropin-Releasing Hormone Agonist Treatment on Dose and Side Effects of Gender-Affirming Hormone Therapy in Adolescent Transgender Patients.

This retrospective chart review aims to address gaps in the literature regarding the efficacy and interaction of gonadotropin-releasing hormone agonists (GnRHa) and gender-affirming hormone therapies in medical transition regimens in transgender adolescents. We abstracted and reviewed data from 83 patients at our pediatric gender clinic, and found that patients who initiated treatment with GnRHa before gender-affirming hormones (estrogen, testosterone) required lower doses of those hormones than those who did not use GnRHa. The results of this preliminary research provide a foundation for future long-term prospective studies aimed to better understand these relationships.

Factors Affecting Fertility Decision-Making Among Transgender Adolescents and Young Adults.

PURPOSE: This study aimed to identify factors affecting transgender adolescents' and young adults' (AYA) decisions to pursue fertility preservation (FP). METHODS: Participants completed a semistructured interview between December 2016 and June 2017 to inform improvements in fertility counseling and the development of a fertility decision aid targeted to transgender youth. Interviews included open-ended questions within the following domains: (1) gender-affirming medical care received, (2) knowledge of gender-affirming hormone effects on fertility and FP options, (3) FP decision-making, and (4) how, when, and what information AYA prefer to receive regarding FP. The interviews were analyzed thematically. RESULTS: Eighteen transgender AYA (ages 15-24) participated (60% participation rate). The majority was White (61%) and assigned female at birth (67%). Half received specialized FP counseling (50%). Few of the transgender AYA pursued FP (33%). Five key themes reflecting factors affecting transgender AYA's FP decision-making were identified: (1) future parenthood desires, (2) individual experiences of gender dysphoria, (3) family values around biological parenthood, (4) financial considerations, and (5) fertility information provision. CONCLUSIONS: Transgender AYA consider numerous factors in deciding whether to pursue FP. Although individual desires for and family values around biological parenthood influenced whether AYA pursued specialized FP counseling, individual experiences of gender dysphoria and costs of FP were barriers. AYA also identified shortcomings in fertility counseling with providers, highlighting the need to establish standardized counseling protocols and develop patient decision aids.

Gonadal Tissue Cryopreservation for a Girl With Partial Androgen Insensitivity Syndrome.

Individuals with differences/disorders of sex development (DSD) have increased rates of infertility. For children and youth undergoing prophylactic gonadectomy for malignancy risk, our institution offers gonadal tissue cryopreservation, an experimental technique to preserve fertility cryopotential. An 11-year-old girl with partial androgen insensitivity syndrome presented for evaluation for fertility preservation in the setting of a planned bilateral gonadectomy at an outside institution. At presentation, the patient had begun puberty with an elevated serum androgen level and was experiencing undesired virilization. She expressed a strong female gender identity, an understanding of the various treatment options, and a preference for gonadectomy to prevent further virilization. After thorough counseling with the patient and family in our institution's multidisciplinary DSD clinic, she underwent bilateral gonadectomy with gonadal tissue cryopreservation. Her gonadal pathologic examination demonstrated well-developed peripubertal testes, with present, albeit decreased, numbers of spermatogonial germ cells, decreased Leydig cells, and nonspecific degenerative changes. The patient and her family chose to maintain the cryopreserved tissue for the patient's potential future use. To the best of our knowledge, the present case is the first reported case of gonadal tissue cryopreservation in a patient with partial androgen insensitivity syndrome. Storage of gonadal tissue is a feasible method of germ cell preservation in patients with DSD undergoing gonadectomy, although further research advances are required to facilitate development of this tissue into mature gametes capable of biological fertility.