ESPE Abstracts

There is a lack of clear evidence-based guidelines for hospital admission of adolescents with anorexia nervosa (AN), resulting in a high degree of variation in practices. Acceptable indications for admission include the following: weight is less than 75% of ideal body weight, temperature < 35.5°C, heart rate < 50 beats/min, systolic BP <80 mm Hg, and orthostatic change in pulse or in BP.The aim of this study: To evaluate the ant...

Objectives: Mutations in PTPN11 are known to be associated with Noonan syndrome (NS), accounting for approximately 50% of cases. Data from a non-interventional and phase 3 study of Norditropin (somatropin; Novo Nordisk A/S, Denmark) were used to assess the impact of PTPN11 mutation status on growth outcomes in children with NS receiving growth hormone therapy (GHT).Methods: The ANSWER (NCT01009905) prog...

Gonadotropin-releasing hormone (GnRH) is the master hormone regulating the reproductive axis and its pulsatile secretion is crucial for puberty onset and fertility. Disruption in GnRH neuron development or hypothalamic function can lead to absent or delayed puberty (DP) due to GnRH deficiency, with a phenotypic spectrum from severe delayed puberty to partial or complete Hypogonadotropic Hypogonadism (HH). HH can also be present as a shared trait with other neurodevelopmental d...

We studied anthropometric measures (z scores) from birth to 2 years in 115 infants who were born with birth weight <2.5 kg but > 1.5 kg. They were divided into two groups based on Fenton's preterm growth standards at birth. Group 1 (AGA) with weight z score (WAZ) > -2 (n = 100), and group 2 (SGA) with WAZ < -2 (n = 15). Postnatal growth data were evaluated based on the WHO growth standard without correction for prematurity.<p class="abste...

Background: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of life. Infants with NDM do not produce enough insulin, leading to hyperglycaemia. An identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell of the ATP sensitive potassium channel (KATP). The identification of KCNJ11 mutation has im...

Background: Familial PTC manifesting in childhood has been described only in single cases, mainly in the context of rare syndromes (APC-associated-syndrome, PTEN-hamartoma syndromes etc). PTC in Grave’s disease (GD) has been described in adults, but not in familial cases including young children.Objective and hypotheses: We investigated the association of large metastatic papillary carcinoma (PTC) in a 10 years old female and her mother evolving rap...

Context: Monogenic obesity (MO) is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early-onset obesity. Mutations in the MC4R and Leptin genes are the commonest causes of MO. Determining the genetic causes has important clinical benefits as novel therapeutic interventions were developed for some forms of MO.Objective:<...

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer in children. Corticosteroids are the cornerstone in treatment of pediatric ALL. Steroids can cause several side effects including secondary adrenal insufficiency with disruption of cortisol response to stress causing morbidity and even mortality in those children.Objective: To assess the adrenal gland function of children with ALL before and after i...

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

Context: Severe vitamin D deficiency may lead to myopathy in adults. Little is known about vitamin D and muscle strength in children.Objective: To test whether hand grip strength (HGS) in 5-year-old-children associates with serum 25-hydroxyvitamin D (s-25OHD) from pregnancy to 5 years.Methods: Observational study in the population-based Odense Child Cohort, Denmark. At 5 years, anthropometrics, body fat percentage by skin fold meas...