ESPE Abstracts

Short stature and skeletal disproportion is recognised in individuals with Turner Syndrome, with several studies demonstrating disproportionately lower leg length compared to sitting height. The skeletal disproportion is thought to at least,in part, to be due to the short stature homeobox containing gene (SHOX) abnormality. Whilst all girls with short stature deserve investigation to rule out Turner Syndrome, the identification of a short pre-pubertal girl with disproportionat...

Abnormal bone development is commonly seen in children with chronic disease. However, fragility fractures in the young individual may be less common compared to older adults, which may be due to under recognition. The underlying chronic condition and medication can impact on bone turnover, modelling, bone mineral homeostasis, growth, pubertal development and muscle mass. The diagnosis and management of osteoporosis in children and adolescents with chronic disease remains conte...

Background: Insulin Tolerance tests (ITT) have long been considered the gold standard for dynamic function testing of the hypothalamo-pituitary-adrenal (HPA) axis. Sub-optimal cortisol responses during an ITT in children may be found in children during ITT without a previous clinical suspicion of Adrenal insufficiency (AI). It is not clear what the clinical significance of this is and whether all of these children require formal synacthen testing.<p class=...

Background: Long-term use of glucocorticoid for management of Duchenne muscular dystrophy (DMD) has been standard of care for over 20 years with documented improvement in outcomes. Side-effects are common particularly endocrine and bone adverse effects. To date, there is limited information on the perception of glucocorticoid side effects by parents/guardians and those living with DMD.Aims:• To identify glucoc...

Background: Management of adrenal insufficiency(AI) during sick-day episodes require adjustment of oral glucocorticoid therapy or administration of intramuscular injection to prevent adrenal crisis. Education of families of a young person with AI on management during sick day episode is therefore critical.Aim: To critically appraise patient education of sick-day episode management of adrenal insufficiency by conducting</...

Background: The 2018 international standards of care for DMD recommend initiating testosterone for management of delayed puberty commencing at a low dose, gradually increasing to adult replacement. No recommendations exist regarding longer term use of testosterone during transition and adulthood.Aim(s): To report long-term use of testosterone in DMD with outcomes of gonadal function and pubertal development in those who ...

Introduction: Isodicentric Y chromosome[idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45, X cell line.Methods: The aim of this study was to investigate the genotype and phenotype variability of patients with idic(Y). The clinical data from five patients was ext...

Background: Hypophysitis is a rare inflammatory condition of the pituitary that can mimic a neoplastic lesion. Histopathology subtypes include lymphocytic, granulomatous, xanthomatous, plasmacytic or a mixed picture. Among these, xanthomatous hypophysitis (XH) is the least common with an unknown aetiology. Unlike lymphocytic hypophysitis, which is believed to be autoimmune in origin, XH is rarely reported to be associated with other autoimmune diseases and res...

Background: Turner Syndrome (TS) is associated with short stature and skeletal disproportion. The impact of treatment with recombinant human growth hormone (rhGH) and oestrogen therapy on body proportions is unclear.Objectives: To evaluate sitting height (SH) and leg length (LL) in TS before growth promoting therapies and at adult height.Method: Retrospective study of height (Ht), SH and LL standard deviation score (SDS) in TS. Bod...

Background: CHARGE syndrome (acronym for coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital hypoplasia, and ear abnormalities) is caused by a mutation in the CHD7 gene. CHARGE syndrome shares features with Prader-Willi syndrome, especially regarding hypothalamic-pituitary abnormalities. In Prader-Willi syndrome, central adrenal insufficiency (CAI) during stressful conditions has been described in a large number of pati...