ESPE Abstracts

ESPE Abstracts

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hrp0095p1-111 | Growth and Syndromes | ESPE2022

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Andrade Nathalia , Funari Mariana , Malaquias Alexsandra , Collett- Solberg Paulo , Gomes Nathalia , Scalco Renata , Dantas Naiara , Rezende Raissa , Tiburcio Angelica , Souza Micheline , Freire Bruna , Krepischi Ana , Longui Carlos , Lerario Antonio , Arnhold Ivo , Jorge Alexander , Vasques Gabriela

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...
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hrp0097p1-184 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan

Batista Rafael , Gomes Nathalia , Bachega Tania , Madureira Guiomar , Miranda Mirela , Dallago Renata , Teresa Ferrari Maria , Lousada Lia , Craveiro Flora , Batatinha Julio , Scalco Renata , Jorge Alexander , Costa Elaine , Helena Sircili Maria , Denes Francisco , Inacio Marlene , Nishi Mirian , Domenice Sorahia , Mendonca Berenice

Context: Differences in sex development (DSD) represent a broad spectrum of conditions that can present at different ages to various healthcare professionals with different backgrounds.Design: This is a retrospective, observational cohort that includes all DSD subjects referred to a multi-professional DSD team over a period of 41 years (from 1980 to 2021).Participants: A total of 6...
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ESPE Abstracts

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