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

IMPE Abstracts

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impe0096p104 | Growth and Syndromes | IMPE2023

Diagnostic implementation of the MS-MLPA technique in patients with clinical suspicion of Beckwith-Wiedemann and Silver Russell syndromes.

Barbara Casali , Paula Scaglia , Azcoiti María Esnaola , Débora Braslavsky , Nora Sanguineti , Romina Armando , Florencia Villegas , Ana Keselman , Analia Freire , Romina Grinspon , Mariana Vilas , Sandra Rosental , Claudia Arberas , Ignacio Bergadá , Gabriela Ropelato

Introduction: MS-MLPA is a specific and sensitive technique for detecting copy number variants and methylation defects in the regions of interest associated with imprinting diseases as Beckwith-Wiedemann (BWS) and Silver Russell (SRS) syndromes and. Both are growth disorders associated with opposite molecular alterations in the 11p15.5 imprinting locus.Aim: To analyze the diagnostic efficiency of MS-MLPA in a cohort of p...
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impe0096p143 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

Ovarian cell dysfunction at diagnosis in girls with haematological malignancies

Lopez Dacal Jimena , Prada Silvina , Arcari Andrea , Freire Analia , Gryngarten Mirta , Gabriela Ropelato Maria , Gabriela Ballerini Maria , Eugenia Rodriguez Maria , Gutierrez Marcela , Soria Marcela , Morán Lorena , E. Ferraro Cristina , Bedecarrás Patricia , Drelichman Guillermo , Aversa Luis , Bergadá Ignacio , A. Rey Rodolfo , P. Grinspon Romina

Introduction: Haematological malignancies represent the most frequent childhood cancer. Little is known about small ovarian follicle function at diagnosis in girls with acute lymphoblastic leukaemia (ALL), acute myeloid leukaemia (AML) or non-Hodgkin lymphoma (NHL). AMH is a useful marker of small follicles.Aim: To determine small ovarian follicle status at diagnosis and after 3 months of chemotherapy in girls and adoles...
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