ESPE Abstracts

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...

Background: Brain tumours are the most frequent solid tumours during childhood. Many of these patients develop endocrine disorders.Objective: To describe our cohort of patients with primary brain tumours, followed in the Pediatric Endocrinology Unit at Hôpital Universitaire Necker–Enfants Malades, Paris, France between 2010–2015, to assess current practice and propose recommendations.Methods: Retrospective a...

Introduction: Primary brain tumors are the second most common childhood malignancies, with an increasing survival rate over the years. Late effects on puberty and fertility alter survivors’ quality of life.Methods: We included 204 patients diagnosed with a primary brain tumor before 18 years, followed in pediatric endocrinology at the University Hospital “Necker-Enfants Malades” in Paris between January 20...

Introduction: Pituitary adenomas (PA) in pediatric and young patients comprise a rare pathology of unknown prevalence. The majority are sporadic, but 5% occur in a familial setting, either as isolated (FIPA) or as part of a syndrome. The identification of genetic alterations has broaden the scope of molecular investigations. We describe the clinical characteristics of patients with sporadic PA arising before the age of 35 years and perform thorough genetic scr...

We characterised the phenotype of PHP patients at two UK tertiary care centres and investigated phenotype-genotype correlations.Method: Retrospective review of case notes for patients with PHP at two UK tertiary care centres.Results: 55 patients, from 41 kindreds, were identified; 32 with PHP1a, 23 with PHP1b. The PHP1a cohort (56% female, 69% White), currently aged 16.7+/-10.6 years, presented at ...

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...