ESPE Abstracts

Background: Recombinant human growth hormone (r-hGH) treatment can optimise growth potential; however, optimum outcomes are not always achieved owing to several reasons, including poor adherence. This analysis sought to operationalize psychosocial drivers of non-adherence in GH patients, using the three-component, evidence-based capability, opportunity and motivation behavioural framework (COM-b). The framework allows for matching of specific interventions to help modify behav...

Context: Some of the features of subjects with Prader-Willi syndrome (PWS) resemble those seen in subjects with growth hormone deficiency (GHD). Children with PWS are treated with long-term growth hormone (GH), which has substantially changed their phenotype. Currently, young adults with PWS have to stop GH treatment after attainment of adult height when they do not have adult GHD. Limited information is available about the prevalence of adult GHD in patients with PWS.<p c...

Background: Inhaled corticosteroids (ICS) and montelukast are commonly prescribed drugs in asthma treatment. Several studies have investigated the adverse effects of ICS on growth and weight gain in children. However, the biosafety studies of montelukast are mostly focused on the neuropsychiatric side effects. The present study aimed at investigating the adverse effects of montelukast and ICS on anthropometric parameters in children.Methods: The present ...

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care and education across Scotland. A key role is the education of health care professionals and how this is delivered. An extensive survey using a Learning Needs Analysis Tool was completed to ascertain learning needs and their delivery across Scotland. This highlighted the desire to have online learning available to health professionals.Objective:...

Introduction: Telemedicine, or the use of CIT (Communication and Information Technology) to deliver and/or share medical remote assistance and knowledge, is of paramount importance, mainly in large countries, with social and economic disparities, as Brazil, by means of teleconferences, webconferences, webcasts and use of a wide range of interactive technologies, helping activities of assistance and professional health education. One of the activities provided by our RUTE (Univ...

Currently, the majority of patients with DSD do not have a molecular diagnosis. Although high throughput sequencing is having an impact on the clinical diagnosis of DSD the accurate interpretation genomic datasets of the identification of new gene mutations causing DSD is challenging. This is due to emerging evidence that DSD may be caused by mutations in many different genes and the prevalence of mutations in a single gene may be very low. As larger number of DSD patients are...

Background: Disorders of sex development (DSD) are a heterogeneous group of disorders related to sex determination and differentiation. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 30–40% of the 46,XY DSD cases are not yet known.Aim: To identify genetic defects in patients with 46,XY DSD.Material and methods: Seventy-six patients with 46,XY DSD were stud...

Aim: To evaluate thyroid function tests and affecting factors in twin and triplet newborns.Method: 655 newborns from 320 multiple gestations (305 twins/15 triplets) were evaluated retrospectively with respect to thyroid function tests (FT4, TSH). The effects of birth order, birth weight SDS, gestational age, maternal thyroid disease, gestational diabetes, assisted reproduction, dopamine were analysed.Results: Gestational age was 25...

Background: The transient postnatal activation of the hypothalamic-pituitary-gonadal (HPG) axis, also called “minipuberty,” is a phenomenon during which gonadal hormone levels increase up to adult levels.Results: In boys gonadotropin and testosterone levels peak at one moths of age and are significantly higher in preterm than in full-term boys. Simultaneously, there is penile growth and the levels of prostate specific antigen increase, indicati...

Traditional medical management of children born with atypical genitals includes genital surgery during early childhood. Young children cannot give informed consent and surgery is usually undertaken after a decision made by the multidisciplinary team with parental input. Long-term outcomes are uncertain and there is scanty research supporting the benefits of surgery on physical or mental well-being. Adult patients clearly describe the distress of multiple genital operations dur...