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FSH for the Treatment of Male Infertility
Open AccessReview

Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

1
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular (LIM/42) da Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, 05403 900 São Paulo, Brazil
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Serviço de Endocrinologia da Santa Casa de Belo Horizonte, Av. Francisco Sales, 1111, 30150-221 Belo Horizonte, Minas Gerais, Brazil
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Department of Diabetes and Endocrinology, Royal Hospital for Sick Children, 9 Sciennes Road, Edinburgh EH9 1LF, UK
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Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark
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International Research and Research Training Centre in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Blegdamsvej 9, 2100 Copenhagen, Denmark
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Medical Research Council (MRC) Centre for Reproductive Health, The University of Edinburgh, The Queen’s Medical Research Institute, 47 Little France Crescent, Edinburgh EH16 4TJ, UK
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(7), 2282; https://doi.org/10.3390/ijms21072282 (registering DOI)
Received: 28 January 2020 / Revised: 9 March 2020 / Accepted: 24 March 2020 / Published: 26 March 2020
Disorders (or differences) of sex development (DSD) are a heterogeneous group of congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired gonadal development is central to the pathogenesis of the majority of DSDs and therefore a clear understanding of gonadal development is essential to comprehend the impacts of these disorders on the individual, including impacts on future fertility. Gonadal development was traditionally considered to involve a primary ‘male’ pathway leading to testicular development as a result of expression of a small number of key testis-determining genes. However, it is increasingly recognized that there are several gene networks involved in the development of the bipotential gonad towards either a testicular or ovarian fate. This includes genes that act antagonistically to regulate gonadal development. This review will highlight some of the novel regulators of gonadal development and how the identification of these has enhanced understanding of gonadal development and the pathogenesis of DSD. We will also describe the impact of DSDs on fertility and options for fertility preservation in this context. View Full-Text
Keywords: disorder of sex development; fertility; fertility preservation; gonads; testis; ovary; sex determination disorder of sex development; fertility; fertility preservation; gonads; testis; ovary; sex determination
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Gomes, N.L.; Chetty, T.; Jorgensen, A.; Mitchell, R.T. Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation. Int. J. Mol. Sci. 2020, 21, 2282.

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