ESPE Abstracts

Introduction: Central precocious puberty (CPP) at a very early age is usually caused by an organic lesion. The most common organic cause of CCP is the hypothalamic hamartoma (HH), which, associated with polysyndactyly, cleft palate and gelastic crises, clinically suggests the diagnosis of Pallister Hall Syndrome.Case: Infant 3-month-old woman with no family history. Polydactyly in hands and feet is evident from the second trimester of pregnancy. Born at ...

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...

Background: The deterioration caused DMtipo1 anthropometric and pubertal development. With intensive treatment, improved HbA1c and less microvascular complications should be similar to normal population.Objective: To study the pubertal development in our population with DM1 and final somatometric variables reached in relation to the normal population.Material and methods: Retrospective study of DM1A debut from diagnosis to final he...

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: Steroids are found in human blood predominantly as sulfated steroids. Conjugation of steroids increases their solubility in blood, facilitating their physiological regulation and excretion. Chromatographic separation and quantification of an extensive number of sulfated steroids is challenging. For instance, androgen sulfates are structurally related and their signals are very similar in mass spectrometry.Objective and hypotheses: Some of the...

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...

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...

Introduction: childhood obesity constitutes a relevant problem of public health. Body mass index (BMI) is the most used anthropometric parameter for its definition: >2 z-score deviation (SD) according to age and sex for reference charts. Recent studies have proposed triponderal mass index (TMI) to identify metabolic risk by obesity. TMI presents the advantage to be a constant value simplifying the calculations.Aims: determine the use...

Background: Severe diazoxide unresponsive hyperinsulinism (DUHI) is most often caused by autosomal recessive variants in the KATP channel genes. Because of the limited medical treatments available, many patients are treated with 98% pancreatectomy. This results in a high rate of diabetes by the age of 15 years. Many centers now try to avoid surgery to prevent the inevitable transition to post-surgical diabetes.Objectives:</strong...

Managing Graves' disease (GD) should be simple. Stop the immune system from targeting the TSH receptor and the disease is cured. Unfortunately this is not yet feasible in most young people and GD is not a trivial condition for those affected. There are significant advantages and disadvantages of all current treatments with no easy way forwards for many and the family's decisions will reflect their perceptions of medical, radiation and surgical risk. The fact that two o...