hrp0082p1-d1-139 | Growth | ESPE2014

Functional Characterization of Three Novel Mutations in the IGF1R Gene

Juanes Matias , Guercio Gabriela , Marino Roxana , Berensztein Esperanza , Ciaccio Marta , Gil Silvia , Rivarola Marco A , Belgorosky Alicia

Background: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. We have previously reported three novel variants in the IGF1R gene: de novo p.Arg1256Ser, de novo p.Asn359Tyr and p.Tyr865Cys (ENDO 2013, OR20-2).Aim: To characterize the functional effects of the novel IGF1R gene allelic variants.Methods: In ...

hrp0095p1-550 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical description of ten paediatric patients with rapid-onset obesity and clinical signs of ROHHAD-NET Syndrome

Aziz Mariana , Leske Vivian , Caminiti Carolina , Armeno Marisa , Ciaccio Marta , Gil Silvia

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a s...

hrp0089p1-p012 | Adrenals and HPA Axis P1 | ESPE2018

Pediatric Adrenocortical Tumors. A Single Tertiary Center Experience: Clinical, Biological and Pathologic Characteristics Analysis

Mattone Maria Celeste , Gil Silvia , Mutti Maria Laura Galluzzo , Casanovas Alejandra , Lazzati Juan Manuel , Zaidman Veronica , Belgorosky Alicia , Guercio Gabriela

Background: Adrenocortical Tumors (ACT) is a rare endocrine malignancy with heterogeneous presentation.Aim: To evaluate the clinical, biochemical and pathologic characteristics of pediatric ACT in a single tertiary center.Subjects and methods: Review of 28 medical records with childhood ACT (chronological age (CA) <18 years (y) treated between 1987 and 2017. Clinical, biochemical, and histological features (Wieneke index), stag...

hrp0089p1-p019 | Adrenals and HPA Axis P1 | ESPE2018

The Usefulness of Combined Analysis of Serum and Salivary Maximum Cortisol Response to Low-Dose ACTH Test to Define the Requirement of Hormone Replacement Treatment

Vaiani Elisa , Lazzati Juan Manuel , Maceiras Mercedes , Gil Silvia , Costanzo Mariana , Zaidman Veronica , Dratler Gustavo , Belgorosky Alicia

Introduction: The low-dose synacthen test (LDT) is widely used to assess central adrenal insufficiency (CAI); however, the total serum cortisol (C) cut-off value is controversial. A correct diagnosis of CAI is required, but overdiagnosis may lead to unnecessary hormone replacement therapy. Salivary cortisol (SC) reflects the levels of free serum cortisol and is a noninvasive alternative.Objective: To define a new cut-off value of serum cortisol in pediat...

hrp0095p1-156 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Cushing´s disease in children and adolescents: Experience of a single tertiary center

Gil Silvia , Gonzalez Ramos Javier , Mansilla Celeste , Fernandez Fastuca Laura , Lubieniecky Fabiana , Rugilo Carlos , Ciaccio Marta , Isabel Di Palma Maria

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...

hrp0092p1-249 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Use of Desmopressin for Bilateral Inferior Petrosal Sinus Sampling (BIPSS) in Pediatric Patients with Cushing Disease (CD)

Gil Silvia , Di Palma Isabel , Vaiani Elisa , Viterbo Gisela , Requejo Flavio , Ramos Javier Gonzalez , Lazzati Juan Manuel , Lubieniecki Fabiana , Rugilo Carlos , Ciaccio Marta

Introduction: BIPSS before and after desmopressin stimulation has been shown to be a useful tool for diagnosis of ACTH-dependent CD and negative magnetic resonance imaging (MRI)or positive MRI but inconsistent biochemical data, in adult patients. However, little is known about its usefulness in pediatric population.Objective: To evaluate the prevalence of negative MRI, the sensitivity of BIPSS before and after desmopress...