hrp0086p2-p681 | Growth P2 | ESPE2016

Evaluation of GH Deficient Pre Pubertal Children Treated with Omnitrope® Using the AuxoLog Computer Program

del Campo Maria Ruiz , Gonzalez Jose Revorio , Lechuga Alfonso , Gila Ana Lucia Gomez , Cancio Monica Fernandez , Carrascosa Antonio , Garcia Margarida Palla

Background: AuxoLog is a validated computer program that evaluates auxologic parameters comparing them with the Spanish growth charts. It also allocates subjects to the corresponding pubertal development group.Objective: To assess the evolution of auxological parameters in GH deficient (GHD) pre pubertal children treated with Omnitrope for a minimum of 2 years prior to puberty.Method: This study is non-interventional, retrospective...

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...