ESPE Abstracts

Background: DICER1 is a member of the Ribonuclease III family that plays a crucial role in the biogenesis and the maturation of microRNAs. Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations: in addition to first described pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumours, individuals may also develop benign (multinodular goiter MNG, cystic nephroma\.) or malignant tumours as differen...

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

Background: High amounts of protein in meals increase blood glucose in patients with type 1 diabetes. Fat delays the increase of blood glucose. Till now we do not know the amount of insulin necessary to prevent the increase of blood glucose after a fat and protein rich meal (FPRM).Aim: To find the Insulin dosage to normalize glucose level after a FPRM.Patients: Sixteen patients with type 1 diabetes (mean±SD; Age 19.7±2.7 ...

Background: IGF1 and IGF2 are major regulators of somatic growth acting mainly through the IGF1R. Variants in IGF1 and in IGF1R were identified to cause intrauterine and postnatal growth retardation but variants in IGF2 have not yet been reported.Method: In a multigenerational family four affected members (two siblings, one first degree cousin and the daughter of one sibling) exhibited severe growth retardation with heights between −4.2 and −...

X-linked hypophosphatemia (XLH, MIM 307800) is a rare hereditary disorder of bone metabolism characterized by growth impairment, leading to bone deformities and short stature and beside others to muscle function deficits. XLH is caused by defect of endopeptidase PHEX leading to high levels of FGF-23 and thereby renal phosphate wasting. While conventional treatment includes substitution of phosphate and 1-25 OH-Vitamin D, now a treatment with a FGF-23 antibody (burosumab) is av...

Background/Aim: Parents wanting to predict adult height (AH) often resort to the old practice of doubling a boy’s height at age 2 years or a girl’s height at 18 months. We coined this the ’Grandma prediction’ (GMP1). It provides predictions with mean absolute error (MAE) 5.9 and 5.2, standard deviations of residuals (sdRES) 4.1 and 3.6, and Pearson correlation r=0.68 and 0.67 for boys and girls, respectively. The recent sophist...

Background/Aim: The trade-off theory claims that a resource (calorie) stored in adipose tissue cannot be used for longitudinal growth, and a calorie used for growth will not be stored as fat.Methods: Out of 2339 children with longitudinal heights and weights (birth to adulthood) from the GrowUp1990 Gothenburg cohort, 1993 (996 girls) were analyzed. For everyone we calculated Energy Trade-Off Score: ETOS = at early adulth...

Introduction: People’s weight-related behaviors may be influenced by their personal social network (SN), notably via family and friends’ behavioral modelling and motivational social support (SS).Objective: We examined the cross-sectional relation between social network-based social support (SS) and weight-related outcomes among adolescents ina pilot study within the QUALITY cohort, a longitudinal study investigating the natural...