hrp0095p2-13 | Adrenals and HPA Axis | ESPE2022

Failure to Thrive as A Manifestation of Neonatal Cushing.

Isabel Scheidt Maria , de Assis Galan Camila , Cristina Pedroso de Paula Leila , da Costa Rodrigues Ticiana , Antonio Czepielewski Mauro , Guaragna Filho Guilherme

Failure to thrive is a term used to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. Case report: female patient, 7 months old, referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to a possible syndromic condition. He had no diagnosed comorbidity to date and was using only prophylactic ferrous sulfate and vitamin D. No family history of similar illness. Physical examination showed hypertric...

hrp0089rfc10.4 | Late Breaking | ESPE2018

Comparative Analysis between Immunoassay and Tandem Mass Spectrometry for Androgens before and after Human Recombinant Gonadotrophin in Children with Genital Ambiguity and 46,XY Karyotype

Oliveira Leticia , Guerra-Junior Gil , Longui Carlos , Guaragna-Filho Guilherme , Costa Jose Luiz , Lanaro Rafael , Silva David , Mello Maricilda , Maciel-Guerra Andrea , Morcillo Andre

Liquid chromatography associated with tandem mass spectrometry (LC-MS/MS) is currently considered the gold standard for steroid measurement. The aim of this study was to compare traditional immunoassay and LC-MS/MS methods for androgens measurement before and after human recombinant chorionic gonadotrophin (hrCG) stimulation in children with diagnosis of disorder of sex development (DSD) with 46,XY karyotype and past of normal testosterone secretion. We evaluated 19 patients, ...

hrp0097p2-77 | Adrenals and HPA Axis | ESPE2023

Massive adrenocortical carcinoma with right atrium invasion in a two-year old girl with li fraumeni syndrome – possibility of succesful ressection after neoadjuvant chemotherapy

Reis Krämmer Bárbara , Faviero de Vasconcellos Natália , da Costa Rodrigues Ticiana , Antônio Czepielewski Mauro , Guaragna Filho Guilherme , Cristina Pedroso de Paula Leila

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...

hrp0097p2-78 | Adrenals and HPA Axis | ESPE2023

Massive adrenocortical carcinoma with right atrium invasion in a two-year old girl with Li Fraumeni syndrome – possibility of succesful ressection after neoadjuvant chemotherapy

Reis Krämmer Bárbara , Faviero de Vasconcellos Natália , da Costa Rodrigues Ticiana , Antônio Czepielewski Mauro , Guaragna Filho Guilherme , Cristina Pedroso de Paula Leila

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...

hrp0097p2-103 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clitoromegaly as a manifestation of neurofibromatosis type 1

Faviero de Vasconcellos Natália , Reis Krämmer Bárbara , da Costa Rodrigues Ticiana , Antônio Czepielewski Mauro , Guaragna Filho Guilherme , Cristina Pedroso de Paula Leila

Background: Clitoromegaly usually is a sign of virilization, and should lead to prompt evaluation in order to allow adequate treatment. Neurofibromatosis (NF) is a syndrome characterized by pigmentary changes, development of benign tumors of peripheral nerve and increased risk of other malignant tumors.Clinical Case: A five year old female patient was referred to the pediatric clinic of Hospital de Clínicas de Por...