ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2020

6. Differences/Disorders of Sex Development and Transgender Medicine

Differences/Disorders of Sex Development: Basic Research

ey0017.6-4 | Differences/Disorders of Sex Development: Basic Research | ESPEYB17

6.4. Dynamics of the transcriptional landscape during human fetal testis and ovary development

E Lecluze , AD Rolland , P Filis , B Evrard , S Leverrier-Penna , MB Maamar , I Coiffec , V Lavoue , PA Fowler , S Mazaud-Guittot , B Jegou , F Chalmel

To read the full abstract: Hum Reprod. 2020, May 15; 10.1093/humrep/deaa041. doi: https://academic.oup.com/humrep/articleabstract/35/5/1099/5837511This study provides a comprehensive reference of the protein-coding and non-coding genome from 24 testes and 24 ovaries of human fetuses. It used an RNA sequencing approach to investigate non-coding sequences, and to ident...

ey0017.6-5 | Differences/Disorders of Sex Development: Basic Research | ESPEYB17

6.5. Undifferentiated spermatogonia regulate Cyp26b1 expression through NOTCH signaling and drive germ cell differentiation

PA Parekh , TX Garcia , R Waheeb , V Jain , P Gandhi , ML Meistrich , G Shetty , MC Hofmann

To read the full abstract: FASEB J. 2019, Jul; 33: 8423–35. doi: https://www.ncbi.nlm.nih.gov/pubmed/30991836Retinoic acid (RA) is essential for the regulation of many developmental events including germ cell differentiation. In the developing testis, tight spatiotemporal control of RA levels is maintained by the enzyme CYP26B1, which inactivates RA. CYP26B1 expres...

ey0017.6-6 | Differences/Disorders of Sex Development: Basic Research | ESPEYB17

6.6. CBX2-dependent transcriptional landscape: implications for human sex development and its defects

P Sproll , W Eid , A Biason-Lauber

To read the full abstract: Sci Rep. 2019, Nov 12; 9: 16552. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851130/pdf/41598_2019_Article_53006.pdfA complex network of genes contributes to (human) sex development. Among these, CBX2 is involved in the initial programming of the bipotential gonad to either the ovary or testis pathway. Ch...