ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2021) 18 6.6 | DOI: 10.1530/ey.18.6.6

Ann Endocrinol (Paris). 2020 Jun;81(2–3):83–88. doi: 10.1016/j.ando.2020.04.004. PMID: 32340851

This short review summarises the history and current knowledge of molecular genetic aspects of the human gonadal differentiation toward ovary.

Major scientific milestones on the topic are described. It is interesting to learn on what grounds it was common doctrine until the end of the last century that the female phenotype occurred ‘by default’. First, Alfred Jost showed experimentally in 1947 that removing testes in rabbit embryos resulted in a female phenotype at birth. Second, in 1990, after identifying the SRY factor on the Y chromosome, experimental manipulation of XX mice by adding Sry+ resulted in a male phenotype. Then, through studies of individuals with different forms of 46,XX gonadal DSDs, it became obvious that the formation of the ovary requires an active inhibition of factors promoting testicular development and a positive stimulation of factors promoting ovary development. Major pro-ovary factors include WNT4, RSPO1, WNT/b-catenin pathway and FOXL2. Human mutations of all these factors have been described in individuals with 46,XX DSD presenting with dysgenetic gonads or (ovo-)testis-like gonads and ambiguous or male typical sex organs.

Knowledge on ovary development still lacks behind the testis. A short search in PubMed revealed a significant increase in published articles on genetics of gonadal differentiation after 1990 with a focus on testicular development. Years later, research data on ovarian differentiation start to appear in the literature but are still outnumbered by +50% data on testis development.

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