ESPE Abstracts

Background: While GH therapy forms the mainstay of growth promoting treatment for Turner syndrome (TS), adjunctive use of oxandrolone and optimal timing of pubertal induction remain controversial. The previously published interim analysis of this randomised double-blind placebo-controlled trial demonstrated that oxandrolone and pubertal induction at 14y vs 12y significantly increased final height. However, these effects were not additive.Objective: To up...

Background: Prader-Willi syndrome (PWS), caused by loss of paternally imprinted genes in the 15q11-13 region, results in hypogonadism which is more severe in males.Objective: To review the gonadal status of patients seen in a dedicated PWS clinic from 1990–2013 inclusive so as to establish the clinical patterns and hence to optimise future management.Method: Retrospective case note review over a 23-year period.<p class="ab...

Introduction: Prompt diagnosis in Prader-Willi syndrome (PWS) is important for counselling the family and thus pre-empt the hyperphagic phase of the condition.Objectives: To determine the key diagnostic features of PWS during the perinatal period and hence recommend strategies to ensure early diagnosis.Study design: Retrospective case note review with prospective questionnaire survey of birth details for the affected child and heal...

Congenital hyperinsulinism (CHI) is a complex heterogeneous disease affecting 1 in 40.000 newborns. Recurrent hypoketotic hypoglycaemia led to permanent mental and motor disabilities in 30-40% of children. Histologically three types had been differentiated: focal, diffuse and atypical. Up to now, only focal-type CHI can be permanently cured by focus removal. Focal-type CHI is characterized by paternal inherited mutation of ABCC8 or KCNJ11 mutations. Therefore mutation anal...

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...

Background: Graft versus host disease (GVHD) is a complex disease resulting from donor T-cell recognition of a genetic disparate recipient, which is unable to reject donor cells after allogeneic transplant. Glucocorticoids (steroids) are the mainstay of acute GVHD therapy. Glucocorticoid resistance has been characterized in several inflammatory conditions including asthma, rheumatoid arthritis, systemic lupus, erythematosus, ulcerative colitis, and Crohn’s disease. Glucoc...

Patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), develop autoantibodies to multiple self-proteins. The patients have high titer autoantibodies to multiple cytokines, most prominently to type 1 interferons and cytokines associated with Th17 cell functions. In addition to these signature autoantibodies, APECED patients develop autoantibodies to many other self-proteins characteristic to autoimmune diseases and display broad autoantibody repe...

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

Congenital hyperinsulinism (CHI) results from inappropriate insulin secretion most commonly caused by mutations in the ABCC8 and KCNJ11 genes which encode for the pancreatic β-cells-ATP-sensitive-potassium channel (KATP) subunits SUR1 and KIR6.2 respectively. Diagnosis of CHI is based on the presence of detectable plasma insulin during hypoglycemia, suppressed β-hydroxybutyrate and NEFA. Diazoxide is the major treatment for CHI, sirolimus had also b...

Background: Permanent adrenal insufficiency (AI) is an uncommon but potentially life-threatening condition in children. Patients are at particular risk during times of stress. Thus, caregivers should have good illness management skills. Despite frequent teaching and seemingly good knowledge of illness management we still see a reluctance of caregivers to administer intramuscular (IM) hydrocortisone at home when indicated, preferring instead to drive themselves...