Applying single-cell analysis to gonadogenesis and dsds (Disorders/differences of sex development)

Martin A. Estermann, Craig A. Smith

Research output: Contribution to journalReview ArticleResearchpeer-review

17 Citations (Scopus)


The gonads are unique among the body’s organs in having a developmental choice: testis or ovary formation. Gonadal sex differentiation involves common progenitor cells that form either Sertoli and Leydig cells in the testis or granulosa and thecal cells in the ovary. Single-cell analysis is now shedding new light on how these cell lineages are specified and how they interact with the germline. Such studies are also providing new information on gonadal maturation, ageing and the somatic-germ cell niche. Furthermore, they have the potential to improve our understanding and diagnosis of Disorders/Differences of Sex Development (DSDs). DSDs occur when chromosomal, gonadal or anatomical sex are atypical. Despite major advances in recent years, most cases of DSD still cannot be explained at the molecular level. This presents a major pediatric concern. The emergence of single-cell genomics and transcriptomics now presents a novel avenue for DSD analysis, for both diagnosis and for understanding the molecular genetic etiology. Such-omics datasets have the potential to enhance our understanding of the cellular origins and pathogenesis of DSDs, as well as infertility and gonadal diseases such as cancer.

Original languageEnglish
Article number6614
Number of pages32
JournalInternational Journal of Molecular Sciences
Issue number18
Publication statusPublished - 10 Sept 2020


  • Cancer
  • DSD
  • Gonad
  • Infertility
  • Ovary
  • Sex determination
  • Sex differentiation
  • Single-cell
  • Single-cell RNA sequencing
  • Testis

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