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...

hrp0097p2-283 | Late Breaking | ESPE2023

Evaluation of body composition in Brazilian children and adolescents with X-linked hypophosphatemic rickets

de Paula Colares Neto Guido , Maria Rodrigues Pereira Rosa , Takayama Liliam , Ferreira de Assis Funari Mariana , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , Matsunaga Martin Regina

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

hrp0098p1-156 | GH and IGFs 2 | ESPE2024

Real-world adherence to growth hormone treatment and catch-up growth in children with growth disorders from the French SCOPE study

Polak Michel , Bouhours-Nouet Natacha , van Dommelen Paula , Berger Sophie , Castello-Bridoux Claire , Untereiner Raphaël , Koledova Ekaterina , Tauber Maithé , Linglart Agnès

Background: The Study and Collection of Observational data for Patients with easypod® Connect (SCOPE) French retrospective study follows children with growth disorders treated with recombinant human growth hormone (r-hGH) therapy via the easypod® connected injection device for up to 5 years.Aim: To show the results from the SCOPE study analysing the adherence to r-hGH therapy in a real-world setting and its effec...

hrp0098p1-162 | GH and IGFs 2 | ESPE2024

An attempt to establish cut-off points for GH concentration during the inhibition test based on the analysis of the test results performed in children without gigantism.

Smalczewska Paula , Stawerska Renata , Kolasa-Kicińska Marzena , Jeziorny Krzysztof , Łupińska Anna , Krasińska Joanna , Pakuła Angelika , Rajewska Sylwia , Zygmunt Arkadiusz

Introduction: A condition that causes strong inhibition of growth hormone (GH) secretion is, among others, hyperglycemia; this phenomenon is used in the diagnosis of suspected GH excess by performing a GH inhibition test after oral administration of glucose (OGTT). In a healthy adult, it has been established that the nadir of GH concentration should not exceed 1 ng/ml (0.4 ng/ml in the case of sensitive tests). It is unclear whether the same standards should a...

hrp0098p2-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Description of a cohort of paediatric patients with congenital hipopytuitarism

Aguilar-Riera Cristina , Gonzalez-Llorens Núria , Mogas Eduard , Campos-Martorell Ariadna , Fernandez Paula , Vázquez Elida , Yeste Diego , Clemente Maria

Introduction: Congenital hypopituitarism is a heterogeneous disorder that involve combined pituitary hormone deficiencies.Patients and Methods: Longitudinal review of pediatric cases with congenital hypopituitarism follow up in a third level hospital.Inclusion criteria: patients under 18 years at diagnosis with combined pituitary hormone deficiencies....

hrp0098p3-134 | GH and IGFs | ESPE2024

Beyond the phenotype. Report of 3 patients with non-typical Noonan Syndrome (NS)

Plomer Paula , Perez Garrido Natalia , Cesar Ramirez Pablo , Marino Roxana , Jimena Diaz Maria , Gabriela Obregón Maria , Gil Silvia , Ciaccio Marta , Isabel Di Palma Maria

Introduction: NS is a relative frequent cause of short stature (ST) in pediatrics and its diagnosis is based on a combination of typical facial features, ST, chest wall defects, cardiac defects, developmental delay, cryptorchidism, lymphatic dysplasia, and family history (“Van Der Burgt Criteria”, revised 2007). Around 50% of NS patients presents a pathogenic variant in the PTPN11 gene. The overlap with other conditions, phenotypic changes...

hrp0092p1-72 | GH and IGFs | ESPE2019

Diagnostic Value of Random Serum Growth Hormone (GH), IGF-I and IGFBP-3 Concentrations for the Diagnosis of Growth Hormone Deficiency (GHD) in Patients Below One Year of Life

Ballerini María Gabriela , Braslavsky Débora , Freire Analía Verónica , Keselman Ana , Rodríguez María Eugenia , Altube Mercedes , Scaglia Paula Alejandra , Bergadá Ignacio , Ropelato María Gabriela

GHD diagnosis in neonates and infants is a challenge owing to the fact that GH pharmacological stimulation tests (GHST) are not approved at this age. In a retrospective study, we found that a random GH<6.5 µg/L confirmed GHD diagnosis in neonates with clinical suspicion of GHD with high diagnostic accuracy (1). The accuracy of GH and its surrogates of action have not been set for infants with current standardized immunoassays.Objective</...

hrp0092p1-270 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Large Spectrum of DSD Phenotype Caused by Pathogenic Variants in Wilms Tumor Suppressor Gene 1

Ferrari Maria Tereza Martins , Domenice Sorahia , Mendonça Berenice Bilharino , Moraes Daniela Rodrigues , Batista Rafael Loch , Gomes Nathalia Lisboa , Nishi Mirian Yumie , Sircili Maria Helena , Paula Tatiana Evelin , Costa Eduardo , Costa Elaine Maria Frade

Introduction: The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline mutations in WT1 have been classically associated with Denys–Drash (DDS) and Frasier syndrome (FS). Exonic missense mutations in the zinc-finger region are the cause of DDS and mutations affecting the canonic donor KTS splice site of intron 9 are the cause of FS. New phenotypes, as 46,XX testicular DSD...