hrp0082p2-d2-281 | Adrenals & HP Axis (1) | ESPE2014

Nonclassic CYP21A2 Deficiency: Diagnosis and Clinical Evolution

Luzuriaga Cristina , Bertholt Maria Laura , Naranjo Cristina , Ezquieta Begona

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

hrp0084p3-1023 | Growth | ESPE2015

Alterations of SHOX and Its Enhancers as a Cause of Short Stature: Evolution of Our Cases

Zuber Maria Laura Bertholt , Tomas Cristina Luzuriaga , Heath Karen , Martin Concepcion Freijo , Gonzalez Cristina Naranjo

Background: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...

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...

hrp0082p2-d1-450 | Growth | ESPE2014

Identification of NPR2 Mutations in Disproportionate Short Stature

Hisado-Oliva Alfonso , Benito-Sanz Sara , Belinchon Alberta , Vallespin Elena , del Pozo Angela , Barreda-Bonis Ana C. , Ramirez Joaquin , Luzuriaga Cristina , Gonzalez-Casado Isabel , Campos-Barros Angel , Heath Karen E.

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...

hrp0084p2-459 | Growth | ESPE2015

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Hisado-Oliva Alfonso , Garre-Vazquez Ana Isabel , Santaolalla-Caballero Fabiola , Belinchon Alberta , Barreda-Bonis Ana Coral , Vasques Gabriela A , Ramirez Joaquin , Luzuriaga Cristina , Gonzalez-Casado Isabel , Benito-Sanz Sara , Jorge Alexander A , Campos-Barros Angel , Heath Karen E

Background: Mutations in SHOX or its regulatory regions have been detected in ~70% of Léri-Weill dyschondrosteosis (LWD) and ~2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci. Recent studies have identified NPR2 defects in ISS patients.Objective and hypotheses: To investigate if NPR2 mutations can account for a proportion of the cases referred for LWD and ISS in whom no SHOX/PAR1 mutation was detected.<...