Gonadal Tissue Cryopreservation for Children with Differences of Sex Development

Horm Res Paediatr. 2019;92(2):84-91. doi: 10.1159/000502644. Epub 2019 Sep 11.


Introduction: Infertility is common for individuals with differences of sex development (DSD) and is a significant concern to these individuals. Fertility potential in many DSD conditions is poorly understood. Gonadal tissue cryopreservation (GTC) for fertility preservation (FP) is offered to children with cancer undergoing gonadotoxic therapy. Our team sought to expand the field of FP by offering and evaluating the success of GTC for individuals with DSD.

Materials and methods: GTC was offered to patients with DSD undergoing prophylactic gonadectomy, after extensive multidisciplinary counseling. For those who elected to attempt GTC, data were retrospectively abstracted, including: DSD diagnosis, age at gonadectomy, indication for gonadectomy, pathology results, and final decision about long-term gonadal tissue storage.

Results: Ten patients were enrolled to attempt GTC, with a mean age of 11.5 years (range 1-18). Five of the 10 patients had germ cells (GCs) present. Diagnoses (age at gonadectomy) for patients with GCs included ovotesticular DSD (13 months), mixed gonadal dysgenesis (17 months), partial gonadal dysgenesis (3 years), partial androgen insensitivity syndrome (11 years), and mixed gonadal dysgenesis (12 years). Four of the 5 subjects with GCs elected for GTC. One opted against GTC, citing immature gametes that did not match gender identity.

Conclusion: GTC at the time of gonadectomy for patients with DSD is feasible. In many patients, GCs are present. While questions remain about the timing of gonadectomy, quality of GCs, and future success for use of the tissue based on technological advancement, GTC represents a novel approach to experimental FP for individuals with DSD.

Keywords: Cryopreservation; Disorders of sex development; Fertility preservation.

Publication types

  • Clinical Trial

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Cryopreservation*
  • Disorders of Sex Development / therapy*
  • Female
  • Fertility Preservation*
  • Humans
  • Infant
  • Male
  • Retrospective Studies
  • Sexual Development*