hrp0084p2-555 | Thyroid | ESPE2015

Pituitary Resistance to Exogenous Levothyroxine in Humans

Lacamara Nerea , Escribano Arancha , Guerrero-Fernandez Julio , Barreda Ana Coral , Gonzalez-Casado Isabel , Moreno Jose Carlos

Background: The pituitary set-point for TSH synthesis and secretion is known to be an individual parameter with a strong genetic influence. Type II iodothyronine deiodinase is a pituitary enzyme involved in local deiodination of T4 and negative feed-back loop for TSH secretion. Defects in DIO2 have not been reported in humans; however, Dio2 knockout mouse has pituitary resistance to T4 with elevated TSH, T4 and TSH/T4 ratio, with nor...

hrp0086p1-p909 | Thyroid P1 | ESPE2016

Identification of a “Cryptic” De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays

Villafuerte Beatriz , de Benito Daniel Natera , Lacamara Nerea , Garcia Marta , Lumbreras Cesar , de Randamie Rajdee , Nevado Julian , Moreno Jose Carlos

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

hrp0092p3-276 | Late Breaking Abstracts | ESPE2019

Exocrine Pancreatic Insufficiency and Vitamin K Deficiency Associated to Octreotide Therapy in Congenital Hyperinsulinism: An Under-Recognized Potential Adverse Effect

Ros-Pérez Purificación , Golmayo Luz , Cilleruelo M. Luz , Gutierrez Carolina , Celaya Patricia , Lacamara Nerea , Martinez-Badás Itziar , Güemes María , Argente Jesús

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...