Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing

Mutations in the <i>HSD17B3</i> gene cause <i>HSD17B3</i> deficiency and result in 46, XY Disorders of Sex Development (46, XY DSD). The diagnosis of 46, XY DSD is very challenging and not rarely is confirmed only at older ages, when an affected XY female presents with primar...

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Bibliographic Details
Main Authors: Luigia De Falco, Carmelo Piscopo, Rossana D’Angelo, Eloisa Evangelista, Teresa Suero, Roberto Sirica, Raffaella Ruggiero, Giovanni Savarese, Antonella Di Carlo, Giulia Furino, Ciro Scarpato, Antonio Fico
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Genes
Subjects:
17β-hydroxysteroid dehydrogenase deficiency
<i>HSD17B3</i> gene
non-invasive prenatal testing (NIPT)
whole exome sequencing (WES)
sex discordance
Online Access:https://www.mdpi.com/2073-4425/12/12/1890

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