hrp0086p2-p68 | Adrenal P2 | ESPE2016

Family Character Isolated Pheochromocytoma by Mutation in Vhl gen

Freijo Martin Concepcion , Laura Bertholt Zuber Maria , De la Rubia Fernandez Luis , Naranjo Gonzalez Cristina

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...

hrp0086p2-p275 | Diabetes P2 | ESPE2016

Pancreatic Reserve and Metabolic Control of Type 1 Diabetes in a Cohort of Spanish Children and Adolescent

Laura Bertholt Zuber Maria , Cristina Luzuriaga Tomas Maria , Andres de Llano Jesus , Freijo Martin Concepcion , Naranjo Gonzalez Cristina

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

hrp0095p1-401 | Adrenals and HPA Axis | ESPE2022

Increased Basal Levels of 17-Hydroxyprogesterone In The Covid ERA: Must We Change The Cut-Off Point To Request Acth Test?

Laura Bertholt Zuber M. , Alonso Rubio Pablo , Palenzuela Revuelta Inmaculada , Pozas Mariscal Sara , Lavín Gómez Bernardo , Teresa Garcia Unzueta M.

Background: 17-hydroxyprogesterone (17-OHP) basal levels greater than 2ng/ml has been related to the need to request an ACTH test to dismiss non-classic congenital adrenal hyperplasia. We have seen an increase in baseline levels in 2021 compared to 2020.Objectives: To determine how many of the tests that were requested due to a high basal 17-OHP value, were positive. Assess the need to modify the cut-off points to reques...