hrp0086p1-p693 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Is it Cautious to Wait for Serum Basal Calcitonin Levels Rise in Patients with Ret Codon C634 Mutation?

De Leon Esther Gonzalez Ruiz , Fernandez Maria Sanz , Sanchez Amparo Rodriguez , Palanca Javier Menarguez , Arnao M. Dolores Rodriguez

Background: 2015 ATA Guidelines for management of medullary thyroid cancer (MTC) include C634 RET codon mutation in ‘High risk’ group, recomendating prophylactic thryroidectomy before 5 years old based on serum basal calcitonin levels (SBCt).Objective and hypotheses: We present 14 pediatric patients with C634 RET codon mutation, who underwent prophylactic thyroidectomy in our center, their clinical and analytical features and anatomopathologica...

hrp0082p3-d2-634 | Adrenals & HP Axis (1) | ESPE2014

Prenatal Dexamethasone Use for the Prevention of Virilization in Pregnancy at Risk for Classical Congenital Adrenal Hyperplasia

Fernandez Maria Sanz , de Leon Esther Gonzalez Ruiz , Iniguez Elena Dulin , Zubicaray Begona Ezquieta , Arnao Dolores Rodriguez , Sanchez Amparo Rodriguez

Background: The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. This can be ameliorated by administering dexamethasone to the mother.Case: This is a family whose index case is a first son diagnosed by Madrid Newborn Screening Program of CAH with salt-wasting form due to 21-hydroxylase deficiency. Mutation analysis revealed: ‘hybrid deletion’ ...

hrp0084p2-440 | Gonads | ESPE2015

A Novel Androgen Receptor Gene Mutation in Two Patients with a 46, XY Disorder of Sex Development

Fernandez Maria Sanz , Arnao Maria Dolores Rodriguez , Sanchez Amparo Rodriguez , de Leon Esther Gonzalez Ruiz , Cancio Monica Fernandez , Parera Laura Audi

Background: Androgen insensitivity syndrome in its complete form (CAIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriated normal concentrations of androgens. Pathogenesis is the result of mutations in the x-linked androgen receptor (AR) gene, which encodes for the ligand-activated AR. We report the clinical, biochemical and molecular features of two affected sisters in whom a nove...