Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the <i>AMHR2</i> Gene and Literature Review

Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the <i>AMHR2</i> Gene and Literature Review

<b>Introduction</b>: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tube...

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Main Authors: Luminita Nicoleta Cima, Iustina Grosu, Isabela Magdalena Draghici, Augustina Cornelia Enculescu, Adela Chirita-Emandi, Nicoleta Andreescu, Maria Puiu, Carmen Gabriela Barbu, Simona Fica
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Diagnostics
Subjects:
persistent Müllerian duct syndrome
supernumerary testes
congenital anomalies
genetic testing
<i>AMHR2</i> gene
Online Access:https://www.mdpi.com/2075-4418/14/23/2621
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