hrp0082p2-d1-516 | Pituitary | ESPE2014

Neuroendocrine Dysfunctions Following Traumatic Brain Injury in Children: a 12-Month Prospective Study

Rojo Pilar , Carcavilla Atilano , Ortiz Irene , Arjona David , Borrego Raul , Aragones Angel

Background: Traumatic brain injury (TBI) is a frequent cause of endocrine dysfunctions. However, studies in children are scarce.Objective and hypotheses: To determine pituitary function in children after TBI. To analyze risk factors related with endocrine dysfunctions after 12 months follow up.Method: A prospective study of endocrine function in children after head injury was performed. Data was collected for baseline Glasgow coma ...

hrp0095p1-201 | Adrenals and HPA Axis | ESPE2022

Gene Chimeras Involving CYP21A2 and TNXB Genes in Spanish Patients with Congenital Adrenal Hyperplasia (CAH)

Martínez Figueras Laura , Escribano Muñoz Arancha , Carcavilla Atilano , Berthold Laura , Llorente Martín Elena , Arriba Domènech María , Ezquieta Zubicaray Begoña

Background-Aim: Gene rearrangements between CYP21A2, TNXB and their homologous pseudogenes (CYP21A1P,TNXA) result in chimeric genes, responsible for the CAHX syndrome. CAHX patients show CAH and Ehlers-Danlos syndrome (EDS) symptoms. Three CAHX chimeras with different clinical severity are described: CH1 (including 120bp deletion in exon 35), CH2 and CH3. The small size and few series reported so far warrant further studies ...

hrp0092rfc1.4 | Diabetes and Insulin Session 1 | ESPE2019

Estimation of Mody Frequency and Prevalent Subtypes in Pediatric Patients by Targeted NGS

Salamanca Luis , Kadaoui Maria Al , Guerrero Julio , Carcavilla Atilano , Itza Nerea , Mora Cristina , Barreda Ana Coral , Dominguez Jesús , Vallespín Elena , Pozo Angela Del , Solis Mario , Aragonés Angel , Hermoso Florinda , Ramirez Joaquín , Teresa Muñoz Maria , Garzón Lucía , Rodriguez Amparo , Escribano Arantxa , Gonzalez Isabel , Campos Angel

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...