Article
Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.
Genes - 25 Nov 2021
De Falco Luigia, Piscopo Carmelo, D'Angelo Rossana, Evangelista Eloisa, Suero Teresa, Sirica Roberto, Ruggiero Raffaella, Savarese Giovanni, Di Carlo Antonella, Furino Giulia, Scarpato Ciro, Fico Antonio
Abstract excerpt
Mutations in the HSD17B3 gene cause HSD17B3 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 primary amenorrhea or develops progressive virilization. The patient described in this paper represents a case of discrepancies between non-invasive prenatal...
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