Society For Pediatric Urology

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Fertility preservation for children with disorders of sex development: a review of six cases
Esther L. Finney, BA1,2, Emilie K. Johnson, MD, MPH1,2, Kristine S. Corkum, MD3, Diane Chen, PhD4, Elizabeth B. Yerkes, MD1,2, Erin E. Rowell, MD3, Marybeth M. Madonna, MD3, Earl Y. Cheng, MD1,2, Courtney A. Finlayson, MD5
1Department of Urology, Northwestern University Feinberg School of Medicine, 2Division of Urology, Ann and Robert H. Lurie Children’s Hospital of Chicago, 3Division of Pediatric Surgery, Ann and Robert H. Lurie Children’s Hospital of Chicago, 4Division of Psychiatry and Behavioral Sciences, Ann and Robert H. Lurie Children’s Hospital of Chicago, 5Division of Endocrinology, Ann and Robert H. Lurie Children’s Hospital of Chicago

Background: Many individuals with differences (disorders) of sex development (DSD) are at risk for infertility secondary to abnormal gonadal development and/or hormone production, or gonadectomy for malignancy risk. While infertility in these individuals was previously assumed, recent literature noted the presence of germ cells in most patients with DSD, with decreasing numbers of germ cells observed with increasing patient age. Fertility preservation (FP) methods are increasingly offered for oncology patients facing gonadotoxic therapy, but historically there have been few options for patients with DSD. We aimed to review our institution’s novel approach to gonadal tissue cryopreservation for individuals with DSD.

We conducted a single-institution retrospective review of gonadal tissue cryopreservation cases for patients with DSD from Jan 2011 to Sep 2017. Children evaluated in a multidisciplinary DSD clinic who underwent fertility preservation counseling prior to clinically-indicated bilateral gonadectomy qualified for IRB-approved protocol. Gonads were bisected intra-operatively with half submitted for pathology evaluation and remaining tissue cryopreserved for patient’s use. Patient/families were counseled on results of pathologic evaluation prior to decision to keep or discard cryopreserved tissue for FP.

Six female-identified patients participated, four with 45,X/46,XY DSD, one with 46,XY DSD due to gonadal dysgenesis, and one with 46,XY DSD due to partial androgen insensitivity (PAIS). Median age was 12 years old (range: 2-18 years). All patients underwent prophylactic, bilateral gonadectomy for malignancy risk. Patients 1 and 6 also underwent gonadectomy to prevent continued, undesirable masculinization during puberty. Patient 1 had spermatogonia in a dysgenetic testis, but ultimately declined preservation of tissue. Patients 2-5 did not have germ cells present for preservation. Patient 6 with PAIS had bilateral peripubertal testes with spermatogonia and cryopreserved the tissue.

Gonadal tissue cryopreservation represents a novel approach to fertility preservation in children with DSD, and is a feasible option for those undergoing gonadectomy. Further research is required to determine patient candidacy, the quality of germ cells, and optimal timing for FP, as well as future fertility desires and impact of procedure on children with DSD. Ethical and financial concerns should also be considered.

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