ESPE Abstracts

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...

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...

Background: Hypospadias is a common malformation of male external genitalia, resulting in urethral displacement with different severity. Male genital development occurs during fetal development when also the brain is developing rapidly. Genital development is dependent on androgen effect, and androgens also have impact on gender development. We here explore whether hypospadias are associated with variation in other aspects of sex typical development.<p c...

Background: Prader-Willi Syndrome (PWS) is a complex genetic disorder characterised by developmental and growth abnormalities, insatiable appetite, and excessive eating (hyperphagia). Hyperphagia is thought to be driven by supraphysiological levels of the appetite stimulating hormone ghrelin; however, the underlying causes of hyperghrelinaemia in PWS are currently unknown. Recently, ghrelin-reactive autoantibodies (isotype IgG) were identified in non-genetic obesity and were f...

Background: Prader-Willi Syndrome (PWS), due to loss of expression from genes within the PWS imprinted region at chromosome 15q11.2-13, is characterized by hypotonia and feeding intolerance in infancy with later development of hyperphagia and obesity. Growth hormone improves tone, body composition, and height and can be started in infancy. Morbidity and mortality in PWS include those secondary to hyperphagia and respiratory illness as well as a 17% reported incidence of sudden...

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...