ESPE Abstracts

Background: It is critical to understand patient-reported outcomes in pediatric patients enrolled in pediatric weight management (PWM) clinics. Health-related quality of life (HRQoL) is low in children with obesity. Utilizing data from the CANadian Pediatric Weight Management Registry (CANPWR), we examined (1) changes in HRQoL up to 3 years after enrollment in PWM and (2) factors associated with change in HRQoL over time.Methods:...

Aim: Western Australia is a state with unique geography and population distribution having only a single tertiary paediatric hospital (Princess Margaret Hospital, PMH in Perth) managing the majority of children and adolescents with fractures in the Emergency Department (ED). Fracture incidence in 0–16 year olds is known to be high and varies between countries with boys having a 1.5 fold higher fracture incidence than girls. There are no specific data for Australia. The ai...

Background: FGF21 is a metabolic and growth regulator.Aim: To investigate the role of FGF21 during growth in infancy.Methods: Cohort of 40 term (T) and 40 preterm (PT) newborns whose length and weight were evaluated prospectively at birth, 6 months, and 12 months. Blood samples for FGF21, IGF1, leptin, insulin and glucose were collected at 6 and 12 months. In addition, FGF21, I GF-I, leptin, and insulin were measured in cord blood ...

Background: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, with an incidence of 1:3000 neonates, and one of the most frequent preventable causes of mental retardation worldwide. Most (65%) cases of primary permanent CH are due to thyroid dysgenesis (TD). However, a genetic cause is identified in less than 5% of CH due to DT.Methods: We performed WES (Whole Exome Sequencing) for siblings with childhood-onset TD and we analy...

Background: 46,XY gonadal dysgenesis (GD) is a spectrum disorder which lead to variable degrees of atypical external genitalia, ranging from female to micropenis and absent of gonadal tissue (known as Embryonic Testicular Regression Syndrome -ETRS). Most patients with 46,XY GD remains without a molecular diagnosis.Objective: To report the DEAH-box helicase 37 gene (DHX37) as a novel candidate for the GD etiology.Patients a...

Background: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, and premature growth cessation.Objective and methods: To characterize the phenotypic spectrum, associated conditions and describe response to growth-promoting therapies, detailed clinical evaluation of 73 mutation positive individuals from 16 families different families with heterozygous ACAN mutations was perfor...

DSD-LIFE is a comprehensive clinical outcome study investigating medical, surgical, psychosocial, and ethical issues to improve treatment and care of patients with the different diagnoses included in the umbrella term disorders/differences of sex development (DSD). The multidisciplinary DSD-LIFE consortium consists of 15 experienced European scientists in the areas endocrinology, psychology, surgery, gynaecology, urology, and ethics. In 2013 the study protocol and the online d...

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

Background: Bone X-rays provide the main diagnostic parameters for chondrodysplasia, including common dyschondrosteosis (DC). Skeleton is usually studied piece by piece by visual analysis in search of characteristic signs. The phenotypic spectrum of DC is large. Indeed, children who have seemingly idiopathic short stature (ISS) may have subtle forms of DC that can be unrecognized.Objectives: Provide a user-friendly computer-assisted program that facilita...

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...