ESPE Abstracts

Background: The short synacthen test (SST) is a popular diagnostic investigation for adrenal insufficiency (AI). Cannulation and blood sampling are required making it invasive, time-consuming and resource-intensive. Salivary cortisol is a well-established alternative to serum sampling.Objective and Hypotheses: To develop a non-invasive alternative to the 1 μg SST, using a novel formulation of Synacthen (with a nasal drug enhancer, chitosan) given na...

Background: The phases of human growth are associated with gene expression (GE) changes1, raising the possibility that rhythmic patterns of GE occur throughout childhood.Objective: In this study, we have assessed time-series patterns of GE profiles associated with age to characterise oscillations.Methods: GE analysis was conducted on cells of lymphoid origin from normal individuals through childhood (n=87, 43 ma...

Background: There is limited evidence regarding the most appropriate method to investigate adrenal dysfunction in neonates. Our unit in Sheffield, UK measures a series of three serum cortisol levels to determine the need for a short synacthen test (SST). Other units use the SST as the first-line investigation in suspected adrenal insufficiency in neonates; however SST is more invasive with anaphylactic risk.Objective and hypotheses: To determine the prop...

Rationale: Although many adolescents meet the NICE criteria for bariatric surgery in the UK, there is a reluctance to undertake or commission irreversible procedures in young people. Balloons are temporary, reversible, safer and in adults have been shown to promote a clinically significant change in BMI of between 4.0 and 9.0 kg/m2. However due to subsequent weight regain, bypass surgery is preferred in adults. In adolescents, more amenable to change, balloons may p...

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s persp...

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...

Background: Over the last 25 years more than 410 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. Mutations in the MC2R were first discovered as causative of FGD in 1...

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...