ESPE Abstracts

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...

Background: Tissue sensitivity to glucocorticoids is characterized by significant inter-individual variation in terms of therapeutic response and susceptibility to several stress-related disorders. Proteomics approaches, combined with appropriate bioinformatics analysis, offer a comprehensive description of molecular phenotypes with clear links to human disease pathophysiology.Objective and Hypotheses: To investigate the usefulness of pl...

Introduction: The Royal College of Paediatrics and Child Health1 highlights the importance of growth as a measurement of health and wellbeing in children. Growth measurements in children can only be evaluated if plotted on a growth chart. The use of growth charts was reviewed in Forth Valley Royal Hospital Paediatric department over 10 days in all clinics held in the paediatric outpatient department.Method: Case notes of all c...

Background: The SNAP study is a prospective fracture study of children with chronic inflammatory and/or disabling conditions.Objective and Hypotheses: The overall aim of the study is to establish if there is a causal link between measured body-size related bone density and low trauma fracture.Method: 280 children, aged 5–18 years, from seven disease groups namely; acute lymphoblastic leukaemia (ALL), rheumatological disease, i...

For the safe delivery of Paediatric Diabetes services at DBTH during the COVID pandemic a postal HbA1c service with patients collecting capillary blood samples to send to the laboratory for analysis was proposed. The aim of this pilot study was to assess stability of HbA1c at ambient temperature in capillary whole blood samples collected into Sarstedt Microvette EDTA tubes. Samples were analysed on the day of collection on the TOSOH G11 analyser and then re-assayed daily for u...

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...

Background: Obesity in childhood and adolescence represents a major health problem of our century that has reached epidemic proportions globally during the last decades. In obese subjects, a relatively high cortisol output in urine has been observed compared to nonobese individuals. However, cortisol concentrations in blood, saliva, and urine in association with obesity have not been consistent across studies. Hair cortisol concentrations (HCC) determined in scalp hair provide...

Background: Protein subfamilies within the Nuclear receptor (NR) family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth, and development. Despite their biological significance, their evolution and diversification remains to be elucidated. SNPs and mutations are characterized by the permanent alteration of the nucleotide sequence in the genome of an organism. These alterati...

Background: Transient Generalized Glucocorticoid Hypersensitivity (TGGH) is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the underlying molecular mechanisms have not been fully elucidated.Objective and hypotheses: To present the clinical manifestations, endocrinologic evaluation and molecular studies in ...