ESPE Abstracts

Introduction-Objective: Nephropathy, retinopathy, neuropathy are long-term microvascular complications of diabetes. Glycated hemoglobin (HbA1c), used as a glycemic control indicator, have proven to be indicative in the development of microvascular complications. In this study, the contribution of HbA1c variability to complication development was evaluated.Method: Twenty one cases with type 1 diabetes mellitus (T1DM) who ...

Up to 10 % of short stature has been estimated to be due to celiac disease. Celiac disease has been considered a rare condition outside of the Western world but recent publications (Singh P et al, Clin Gastroenterol Hepatol 2018 Jun 16 (6): 823-836, Yuan J et al, Clin Gastroenterol Hepatol 2017 Oct;15(10): 1572-1579) have shown that celiac disease is also present in Asians. While Tissue Transglutaminase IgA (tTg-IgA) has been considered to be a sufficiently sensitive test to e...

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...

Aim: Recommendations for the management of Congenital Adrenal Hyperplasia (CAH) outline a target 17-OH Progesterone (17OHP) of 12-36nmol/l, but do not specify target concentrations for Androstenedione (D4). We aimed to study the temporal variations of these biomarkers in patients from different geographical regions.Method: This retrospective multi-centre study, including 21 centres (14 countries), analysed serum biomarke...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Background-Hypothesis: Sudden initiation of treatment for diabetes insipidus (DI) with DDAVP causes abrupt volume expansion resulting in particularly high secretion of Atrial Natriuteric Peptide (ANP) (1). ANP blocks all stimulators of zona glomerulosa steroidogenesis, resulting in secondary mineralocorticoid deficiency and acute hyponatremia, causing renal salt wasting (RSW) (2). Cases: Two sisters, a 19-year-old girl (A) and a 7-year-old girl (B) with Wolfra...

Introduction: Children with growth hormone (GHD) often exhibit unique patterns in glucose and insulin metabolism, which could potentially deteriorate upon receiving GH therapy. This therapeutic intervention, while crucial for promoting normal growth, may inadvertently influence the intricate balance of glucose homeostasis and insulin sensitivity,Methods: We reviewed and analyzed 12 studies based on their relevance, in ch...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

The impact of DSD on future fertility is dependent on several factors. The key determinant of fertility potential is the status of gonadal development and function, and whether the individual has ovarian tissue with viable oocytes, or testicular tissue capable of producing functional sperm. Fertility risk will be primarily determined by the underlying diagnosis, modified by several additional factors. Whilst fertility preservation options are well established for many patient ...