ESPE Abstracts

Introduction: The CATCH 22 syndrome or DiGeorge syndrome or velocardiofacial syndrome, is a frequent pathology with the worldwide prevalence estimated between 1 / 2,000 and 1 / 4,000 live births. The classic clinic is characterized by typical facial features (narrow palpebral fissures, bulbous nasal tip, small mouth and ears, malar hypoplasia) with functional insufficiency of the soft palate in about 75% of those affected, difficulties in learning, language and behavior , cong...

Introduction: In the last year, the pediatric services have seen a reduction of up to 50% of the consultations and 1/3 of the admissions to the hospitalization ward; However, the existence of other pathologies cannot be forgotten despite the current situation, such as hypothyroidism, diabetic ketoacidosis, short stature, precocious puberty, etc., as far as endocrinology is concerned. Difficulty in accessing primary care, non-contact visits, along with the fear of families to g...

Objective: To study how basal metabolism influences the somatometric evolution of the child and adolescent population with obesity in a pediatric endocrinology clinic; multichannel impedance study, TANITA BF 430.Results: 100 randomly selected patients from a database with 1400 records were studied. Most of the patients who come to these consultations for obesity are girls, between 8 and 11 years old. The group of boys at...

Transversal study. Patients from 0 to 17 years of age who had undergone an analytical determination of 25OHD during the year 2021 in our hospital were collected. The following were contrasted: 25OHD, PTH, total calcium, age, sex, reason for requesting analysis, time of year and country of origin. 25OHD ranges: normal >30 ng/mL, suboptimal 20-30 ng/mL and deficit <20 ng/mL; and normal PTH: 9-60 pg/mL.Results: 1. Prevalence of vitami...

Background: Recognizing the risk of developing obesity is essential to implement preventive measures to avoid the increasing prevalence of obesity in adulthood.Objective: To evaluate predictive factors that may be associated with overweight and obesity in early adulthood.Method: A regression analysis of different variables of body composition in a normal population have been done. The sample consisted of 122 boys and 120 girls foll...

Background: There is increasing interest in vitamin D nutrition during pregnancy because of widespread reports of a high prevalence of low vitamin D status in pregnant women in high-latitude areas. It has been related to adverse events in mother and child. Neonates present a greater risk of hypocalcaemia, rickets and a higher incidence of infections during the 1st year of life.Objective and hypotheses: Real situation of pregnant women and newborn in rela...

Introduction: The accumulation of fat in the liver is a serious complication of childhood obesity seems to be associated with cardiometabolic risk.Objective: To examine the association between fat accumulation in the liver and cardiovascular risk factors in overweight children.Material and methods: In the study 68 children/as (51.4% girls) were overweight or obese (defined according to the classification criteria of the Internation...

Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...

Background: Hoffmann syndrome is a specific and rare form of hypothyroid myopathy in adults characterized by presence of muscle stiffness, proximal weakness and pseudohypertrophy. When this occurs in a cretin child it is known as Kocher–Debré–Sémélaigne syndrome. Patients with more severe or longstanding untreated hypothyroidism are more likely to develop clinically significant muscle disease. Serum muscle enzyme levels as CK, myoglobin and lactate deh...

Background: CNS tumors are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, we have shown that in paediatric gliomas, IGF-1R nuclear localization was significantly associated with both high grade tumours and increased risk of death, suggesting that nuclear IGF-1R localization may contribute to an aggressive behaviour of these tumours.<p class="...