ESPE Abstracts

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

Background: Mexico is globally ranked as one of the countries with the highest incidence of congenital hypothyroidism. There are few studies that have searched for germinal mutations of candidate genes, such as NKX2-1, in patients with congenital hypothyroidism.Objective and hypotheses: i) To search for NKX2-1 mutations in blood samples of patients with confirmatory diagnosis of congenital hypothyroidism (CH) due to thyroid dysgenesis (...

Objective: Somatic mutations in the USP8 gene were discovered as the most common genetic defects in corticotropinomas with a frequency of 30 to 60% in adult patients. With regard to pediatric patients, establishing prevalence of USP8 mutations is still challenging due to the rarity of CD incidence in childhood.Aim: To determine the frequency of somatic genetic drivers of CD in a cohort of pediatric patients.<p class=...

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...

Background: Antithyroid drugs (ATD) are recommended as the initial treatment in Graves disease in childhood and adolescence. Identification of predictive factors might lead to improve patient management by facilitating the identification of patients requiring long-term ATD or early alternative therapy.Objective and hypotheses: To assess the prevalence of signs and symptoms of hyperthyroidism in childhood and adolescence, to evaluate the rates of adverse ...

Objective: The aim of this study was to evaluate the difference between the incidence of hypoglycemia in those preterm newborns who were exposed to steroids and those who were not.Methodology: This is a prospective cohort study of preterm infants born between 2017 and 2018 at a gestational age of 26 to 34 6/7 weeks in the Hospital Universitario de Santander- HUS- in Bucaramanga, Colombia.Results: 128 preterm infants were e...

Background: We recently identified loss-of-function mutations in makorin ring finger 3 (MKRN3) as a cause of familial central precocious puberty (CPP). Analysis of Mkrn3 expression in the arcuate nucleus of mice showed high expression levels in juvenile mice, with a marked reduction prior to puberty onset, suggesting that MKRN3 inhibits puberty initiation. The function of MKRN3 is not known but based on its amino acid sequence, it is predicted to act as an ubiquitin l...

Background: Up to 50% SGA did not do a proper catch up (for over/under) and may have implications in size, metabolic, cardiovascular. Arises: epiSGA – PreMeb Project. Global approach to study.Objective: Create clinical cohort of SGA for monitoring, assessment catch-up, use GHRH requirements, environmental/social factors and variables influence on clinical, laboratory and metabolic profiles in order to progress in the knowledge of natural history. Pr...

Background: Although the theoretical impact of small in weight and/or size at birth (<2 SDS for EG) is 3–5% (3.5% in the Basque Country (source: Local Government) the socio-economic situation in our country has conditioned a change in its l although 50% at 2 years did not do a proper catch up (by excess or defect) with potential impact on future size and metabolic complications, cardiovascular require specific monitoring.Objective: To assess soc...

Background: SGA cohort study in analytical and metabolic variables at 3 and 12 months of age with somatométrica situation.Material and methods: Live births in singleton pregnancies in our hospital during 2012–2014, PEG were studied according EG and weight/height (Spanish Tablas 2008). Tours are conducted at 0, 3, 6, 9, 12 months, with measurements of weight, height and perimeter. Blood samples are obtained at least fasting discussed 4h and exce...