ESPE Abstracts

Background: Collaborative project to review the phenotypic and genotypic data from children recruited to the UK wide deciphering developmental disorders (DDD) study.Objective and hypotheses: To report the frequency and range of disorders of sex development (DSD) phenotypes observed in DDD participants who have one or more associated ‘neurodevelopmental delay’ diagnostic human phenotype ontology (HPO) term.Method: Retrospe...

Background: Childhood haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors have multiple risk factors for reduced bone mineral density (BMD) and poor growth. Reduced z-scores from dual energy x-Ray absorptiometry (DEXA) have been reported, but are unreliable in patients with short stature/abnormal body composition.Objective: To investigate the influence of HSCT/TBI on size-corrected BMD in childhood leukaemia ...

Background: The well-documented increased cardiometabolic risk in haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors is under-recognised using standard (International Diabetes Federation (IDF)) metabolic syndrome (MetS) criteria. This is defined as the presence of central adiposity using increased waist circumference (WC) or BMI, (often not abnormal in HSCT/TBI survivors despite increased central adiposity), plus additional features includ...

Background: Severe obesity (SO), defined as BMI ≥95th percentile, has increased worldwide among adolescents. American studies estimated that 1.3–2.8% of 12–19-year-old individuals have a BMI >40 kg/m2 or a BMI >35 kg/m2 with at least one serious co-morbidity. The immediate and long-term risks associated with SO in adolescents include cardiovascular and metabolic diseases, obstructive sleep apnoea, and nonalcoholic fatty liver disea...

Background: In adults it has been shown, that GHmax values after provocation testing are negatively correlated to BMI. Preliminary studies in children have found a similar correlation. Consequently children with elevated BMI would be overdiagnosed with GHD. However, studies so far were too small to define this correlation exactly. This would be a condition to judge whether and to what extend adjustments of GH cut-off levels should be considered also in children with elevated B...

Objective and hypotheses: To describe the morphological characteristics of patients with Prader-Willi Syndrome (SPW) who have been followed in a Pediatric Endocrinology Outpatient Clinic.Method: We performed a retrospective study on 51 patients evaluating the age of diagnosis, genetic mutation, use of GH (rhGH), age of beginning of follow-up, and z-score of weight, height and BMI. Data on their first and latest visit to our clinic were compared....

Background: Individuals with congenital adrenal hyperplasia (CAH), a form of adrenal insufficiency, are exposed to daily non-physiologic, non-circadian cortisol profiles due to both the disease and therapeutic limitations. Dysfunction in the hypothalamic-pituitary-adrenal axis is strongly associated with depressive disorders. However, little is known about the prevalence of depression among children and young adults with CAH. We investigated the prevalence of ...

Background: The COVID-19 pandemic has resulted in rapid implementation of tele-clinics; patients have frequently missed routine point-of-care HbA1c testing, vital for evaluating long-term glycaemic control. We evaluated the feasibility of remote HbA1c monitoring via self-collection of capillary blood samples at home, and examined clinical characteristics associated with engagement with this system.Methods: Bio-Rad Haemog...

Methods: Patients commenced 0.75mg/kg carbimazole (CBZ) daily with randomisation to either BR or DT. We examined baseline patient characteristics, CBZ dose, time to serum TSH/FT4 normalisation and BMI Z-score. Results: There were data available from 80 patients (baseline) and 78 patients (61 female) at 6 months. Mean CBZ dose was 0.9 mg/kg/day (BR) and 0.5 mg/kg/day (DT). There was no difference in the time taken for...

Background: Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a form of congenital adrenal hyperplasia (CAH) and results in steroid-production loss from cytochrome P450 proteins. Mutations in POR cause mild to severe forms of CAH with/without bone malformation symptoms resembling Antley-Bixler syndrome. We report a novel POR Arg550Trp mutation identified in a 46,XX patient with signs of aromatase (ARO) deficiency. Child (first pregnancy) and mother pr...