ESPE Abstracts

Background: In the past years, new glucometers with integrated automated bolus calculator, are available in the market for patients whith type 1 diabetes (DM1) in multiple daily injections (MDI) therapy. The limited bibliography about the use of these meters in the pediatric population with DM1, suggests that it may have beneficial effects in terms of glycaemic control and improved quality of life.Objective and hypotheses: The use of a glucometer with an...

Objective: To analyze the efficacy of GH treatment in pediatric patients in a hospital from 1982 to 2013.Material and methods: Retrospective study whose population are patients who have been or are being treated with GH in a Tertiary Hospital. The following data were collected: indication of treatment, years of treatment, genetic target height, height at start and the end of treatment, with their corresponding S.D.. A simple linear regress...

Background: Central precocious puberty (CPP) is a common condition in girls and has been associated with deterioration of final height (FH). Height prognosis (HP) is critical for the decision of treatment in CPP. There are several methods for predicting FH in CPP but none is completely reliable. Most methods consider bone age (BA), which is very imprecise, but there is no consensus on which method is the best to estimate FH.Objective: To compare the accu...

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: T1DM incidence in children varies across regions and countries, showing a continue rise Worldwide.Objective and hypotheses: To determine the incidence of T1D in Chilean children under 20 years between 2006 and 2012.Method: We reviewed mandatory notifications of T1D (GES Program) in Chile’s public health system in population younger than 20 years between 2006 and 2014. Data were obtained from the Department of Infor...

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...

Introduction: Hyperthyroidism (HT) is a condition characterized by inappropriately high thyroid hormone (TH) activity at receptor level, due to high synthesis and secretion of TH by thyroid gland. Antithyroid drugs as methimazole (MMI) are used as the first-line therapy in children. However, the optimal treatment duration and the predictive remission factors are still controversial.Objective: To investigate outcome of MM...

Background: Severe deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) triggers activation of mineralocorticoid receptor (MR) by cortisol and causing apparent mineralocorticoid excess (AME) syndrome characterized mostly by low-renin arterial hypertension and hypokalemia. In 2003, we studied a patient with AME (3 years-old) having two homozygous mutation, D223N (rs121917833) and a SNP C>T in intron 3 (rs376023420) (Carvajal et al. JCEM 2003).<p cla...

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...