ESPE Abstracts

Background: The childhood obesity is a common reason for consultation, due to the increase of this disease in our society, the instruction of the patient and the family consumed many resources.Objective: Study the obese children who attended during the year 2012 valuing the results at 4 and 8 months.Method: 37 obese children(SDS >2), valuing sex, age, family history (FH), anthropometrics measures at birth and the time of the st...

Background: Epidemiologic studies have documented that sleep duration is associated with obesity risk children’s.Objectives: To investigate sleep duration of 4-year-old children (h/day) and to evaluate the association of sleep patterns with weight status at 4 years.Methods: 393 children from the INMA birth cohort of Asturias (Spain). We analysed sleep duration (h/day) during the night and afternoon nap, reported by their paren...

Background: The pituitary set-point for TSH synthesis and secretion is known to be an individual parameter with a strong genetic influence. Type II iodothyronine deiodinase is a pituitary enzyme involved in local deiodination of T4 and negative feed-back loop for TSH secretion. Defects in DIO2 have not been reported in humans; however, Dio2 knockout mouse has pituitary resistance to T4 with elevated TSH, T4 and TSH/T4 ratio, with nor...

Background: Type 1 diabetes mellitus has three common presentations: Typical (hyperglycaemia with cardinal symptoms), ketoacidosis and asymptomatic hyperglycaemia.Case presentation: A 7.5-year-old girl with a history of bronchial asthma presented to the emergency department with acute-onset diabetic symptoms. The previous year she was admitted to the Paediatric Ward for a pneumonia complicated by pleural effusion. She then developed hyperglycemia (400 mg...

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

Results: During the years of this study, the prevalence of NB reported as suspected with CH was 1:1220 NB, showing a stable trend on the linear tendency analysis; when adjusted for cases with confirmed high values of TSH in umbilical cord measurement, the prevalence is 1:3041 NB. Regarding the demographic data of the patients analyzed, it was found 54% were men and 46% women. Of the total CH cases with a reported weight, 20% weighted less ...

Introduction: Prolonged evolution of an untreated hypothyroidism can lead to thyrotropic cell hyperplasia, which could be indistinguishable from a pituitary macroadnoma on resonance. Differential diagnosis is very important since it allows to avoid aggressive therapeutic behaviors.Case report: We show a 3-year-old girl who, in the context of a study due to psychomotor retardation, borderline head circumference and coarse features, presented in magnetic r...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol synthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin deficiency causes Enlers-Danlos syndrome (EDS). A variant called CAH-X, has recently been described, resulting from CYP21...

Introduction: Failure to thrive (FTT) is a common entity encountered by pediatricians. It can be caused by inadequate energy intake or “organic causes” such as inborn errors of metabolism or disorders of the endocrine system. One cause that is rarely seen is a deficiency of aldosterone.Case presentation: A set of 3-month-old monozygotic male twins presented with failure to thrive and dehydration. Initially, they were evaluated ...

Introduction: Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband.<p class="a...