ESPE Abstracts

Background: Hypoglycaemia is one of the most common presenting complaints at paediatric emergency department. There are many distinct causes of hypoglycaemia, ranging from nutritional insufficiency, infectious origins, to metabolic disorders. A thorough investigation can help differentiate the cause of hypoglycaemia, with subsequent tailored management. All patients with hypoglycaemia should have a full clinical assessment and together with a hypoglycaemia scr...

The experiences of older adults with Variations in Sex Characteristics (VSC or Differences/Disorders in Sex Development/DSD) are well documented. However there has been a gap in the literature with respect to representing the voices of younger people. This qualitative research study has been conducted in collaboration with Intersex Trust Aotearoa New Zealand. Ten young people with VSC were recruited via health professionals, intersex advocates, support groups and social media ...

Background: GnRH analogue and subsequent oestradiol treatments are indicated to alleviate gender dysphoriain adolescent male to female young people (MtF; transgirls). Side effects include impairments in gonadal histology that may cause infertility or biological sterility. Current guidelines encourage professionals to address potential infertility risk and fertility preservation options with transgender youth and their families before starting these treatments.<p class="abs...

Background: Hypothyroidism is a well-known treatable cause of global developmental delay in developing children. In recent years contrast imaging studies are much more commonly employed as diagnostic means in the treatment of various pediatric conditions. In 2022, the FDA issued a warning recommending thyroid function monitoring in babies and young children who receive injections of iodine-containing contrast media(ICM) for medical imaging. They recommend the ...

Background: Rare-disease registries are considered to be the key for improving patient care through research and audit. In the field of paediatric endocrinology, the views of parents and affected young people about such registries are unclear.Objective: To conduct a survey to understand the views of parents and young people with rare conditions.Method: A structured questionnaire was completed by two groups of clinic attendees, thos...

Background: Achondroplasia is a skeletal dysplasia being the most common cause of rhizomelic dwarfism.Case presentation: We present a 10 years old boy who was first diagnosed prenatally. He had a mutation c1138G>A in the gene FGFR3 in a heterozygotic constellation. His IGF1 levels and IGFBP3 were normal. Two stimulation tests for GH were performed with normal levels of the hormone. His psychomotor development was adequate for his age except for speec...

Background: Obesity is a well-recognized complication of craniopharyngioma. Increased hypothalamic involvement (HI) by the tumour and accordant treatment has been associated with greater obesity. Changes in hypothalamic control of the autonomic nervous system (ANS) have been implicated in the development of hypothalamic obesity however, long term changes in the ANS have not been assessed.Objective and hypotheses: We aimed to evaluate ANS activity using h...

Background: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (MODY).<p...

Aim: Data on response to GH treatment in the very young children with GH deficiency is scarce. The aim of this study was to evaluate the growth response in such children in a national multicentre study and to analyse the factors affecting the growth response.Materials and methods: In this study, we retrospectively evaluated the files of GH deficiency patients who had started GH treatment between 0–3 years of age who were being followed in 14 differe...

Background: Bicuspid aortic valve and aortic dilation are common in Turner Syndrome (TS). Aortic dissection is a well recognised cause of cardiovascular death, with an estimated incidence of 1.4 per 100 patients with TS. The biophysical properties of the aorta, including pulse wave velocity (PWV), characteristic impedance (Zc), input impedance (Zi), elastic pressure-strain modulus (Ep), and beta index (β-index), have not been well studied in TS. PWV is considered the most...