Eleni Kousta, Asteroula Papathanasiou, Nicos Skordis
There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities …
Ayça Altincik, Fahri Karaca, Hüseyin Onay
BACKGROUND AND OBJECTIVE: Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene …