ESPE Abstracts

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.<...

Background: Neuroendocrine tumors from adrenal and extra-adrenal chromaffin cells are characterized by overproduction of catecholamines (CA), leading to the increase of urinary O-methylated metabolites (uO-Met) excretion, reliable biomarkers for the initial screening, diagnosis and monitoring of patients with pheochromocytoma and paragangliomas (PPGLs).Objective: To develop and validate a UHPLC-MS/MS method for the simul...

Background: Vitamin D (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective: To evaluate the levels of 25OHD from gestation to 12 years, assessing seasonality and intake.Material and methods: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004-2007 and th...

Background and aims: The introduction of next-generation sequencing (NGS) as an essential tool for the routine molecular diagnosis of DM has highlighted the under-diagnosis of monogenic diabetes mellitus (MonDM). Accurate molecular diagnosis of the MonDM subtype has important implications for prognosis and choice of treatment, family counseling and health management, enabling precision medicine. The main objective was to clinically and molecularly characterize...

Background: Childhood onset PTC has a more aggressive presentation but no overall increase in mortality compared to adults.Objective: To characterize a pediatric cohort with PTC at diagnosis using the American Thyroid Association (ATA) Initial Risk Stratification (IRS) and to evaluate the response to initial treatment until 3 years based on the modified ATA Dynamic Risk Stratification (DRS) for adults.<p class="abste...

Introduction: PGD is characterized by hyperthyroidism and antibodies against the TSH receptor (TSHRAB). Reported annual incidence is 4,58/100,000.Objective: To describe an Argentinean cohort with PGD followed between 2006 and 2020 at the Ricardo Gutierrez Children’s Hospital.Material and Methods: Retrospective study of 69 patients, who were treated initially with antithyroid ...

Introduction: The Sonic Hedgehog (SHH) gene is involved in the development of midline structures. Pathogenic variantd in this gene have been associated to holoprosencenphaly 3; Microphthalmia with coloboma 5; Schizencephaly; and Single median maxillary central incisor syndrome (SMMCIS). All of them are inherited in an autosomal dominant pattern and exhibit incomplete penetrance as well as variable expressivity.Case Report:</stron...

A structured program of therapeutic education is essential to achieve a good result from the use of technology in the treatment of diabetes.Objectives: Facilitate knowledge, skills and aptitudes to patients and their families in therapy. Promote the capacity for self-management and adherence to treatment. Provide ongoing support to patients. Improve clinical outcomes, health status and quality of life.Metho...

Background: GH deficiency may not persist into adulthood. Thus, it is recommended to reassess it after reaching adult height. However, according to stimulation tests, they have poor specificity, reproducibility, and poor standardization of hormonal measurement, and they are expensive and involve risks.Objective and hypotheses: Establish if IGF1 would be a better reassessing method than stimulation tests in adult GH defic...

The transition phase is the period from the end of puberty until achievement of full adult maturity. We report the results from 45 patients with pituitary deficiency (15-24.9years), 28 (16males) with congenital insufficiency (G1) and 17 (10males) with acquired disease (G2), evaluated at the end of GH therapy. All cases had confirmed GH deficiency; 89.2 % of cases from G1 had multiple pituitary deficiencies (TSH 23/28, LH/FSH 19/28, ACTH 15/28 and Prolactin 3/28), 94.1 &#37...