ESPE Abstracts (2022) 95 WG1.1

MRC Centre for Reproductive Health. University of Edinburgh, Edinburgh, United Kingdom. Department of Paediatric Endocrinology, Royal Hospital for Children and Young People, Edinburgh, United Kingdom

The impact of DSD on future fertility is dependent on several factors. The key determinant of fertility potential is the status of gonadal development and function, and whether the individual has ovarian tissue with viable oocytes, or testicular tissue capable of producing functional sperm. Fertility risk will be primarily determined by the underlying diagnosis, modified by several additional factors. Whilst fertility preservation options are well established for many patient groups such as those receiving gonadotoxic treatment for cancer, there are a number of important additional considerations for those with DSD that must be evaluated on an individual patient basis. This includes potential for ongoing germ cell loss, risk of gonadal malignancy, genetic risk to offspring and factors related to feasibility of future use of gonadal tissues or gametes [1]. Developing appropriate fertility preservation options in individuals with DSD requires understanding of gonadal and germ cell development, which in turn requires a combination of clinical studies and experimental models, including a range of established in-vivo and in-vitro approaches [2,3]. We will discuss the clinical and experimental evidence for fertility potential and options for fertility preservation across a range of DSDs.


1. Gomes NL et al. Disorders of Sex Development-Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation. International Journal of Molecular Sciences. 2020 Mar 26;21(7):2282.

2. Hurtado-Gonzalez P et al. Effects of Exposure to Acetaminophen and Ibuprofen on Fetal Germ Cell Development in Both Sexes in Rodent and Human Using Multiple Experimental Systems. Environmental Health Perspectives. 126(4):047006. 2018

3. Macdonald J et al. DMRT1 repression using a novel approach to genetic manipulation induces testicular dysgenesis in human fetal gonads. Human Reproduction. 1;33(11):2107-2121. 2018

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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