ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2019

ey0016.6-11 | DSD Reviews | ESPEYB16

6.11. Testis development

JA Makela , JJ Koskenniemi , HE Virtanen , J Toppari

Endocrine Reviews, Volume 40, Issue 4, August 2019, Pages 857–905doi: 10.1210/er.2018-00140. PMID: 30590466This encyclopedic article reviews the molecular and organizational events that take place during testicular development from the very early start, i.e. the development of the primordial germ cells before gastrulation and of the gonadal ridges at 3–4 week...

ey0016.6-12 | DSD Reviews | ESPEYB16

6.12. New technologies to uncover the molecular basis of disorders of sex development

H Barseghyan , EC Delot , E Vilain

Mol Cell Endocrinol. 2018 Jun 15;468:60–69.doi: 10.1016/j.mce.2018.04.003. PubMed PMID: 29655603Since the description of the first DSD gene, SRY, in the early 1990s (OMIM 480000), genetics has become a major player in research and clinical workup of DSD. The advances of today’s technologies in genetics and the limitations are summarized in this r...