Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

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impe0096p138 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

Pitfalls in the molecular diagnosis of 46, XY DSD complete gonadal dysgenesis.

Perez Garrido Natalia , Ramirez Pablo , Perez Mercedes , Zelaya Gabriela , Eugenia Foncuberta Maria , Costanzo Mariana , Celeste Mattone Maria , Guercio Gabriela , Marino Roxana

Introduction: The 46, XY complete gonadal dysgenesis (CGD) is characterized by the presence of a female phenotype and completely undeveloped gonads (streak). This entity is considered as high-risk condition for the development of gonadal germ cell cancer.Aim: to characterize the genetic etiology in a patient with 46, XY DSD and CGD.Case report: A 12-year-old girl was admitted by a ...
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