ESPE Abstracts

Introduction: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000 – 160,000, caused by mutations across >20 known genes encoding for proteins responsible for the integrity of the primary cilium/basal body complex. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been r...

Background: Common metabolic diseases, including diabetes and obesity, are the result of interactions between genes and environment. It is well-recognized that the maternal intrauterine environment is an important modifier of this risk. Thus, fetuses carried by women who are obese, diabetic or suffer from suboptimal nutrition are at increased risk of insulin resistance, obesity, type 2 diabetes (T2D), and cardiovascular disease as adults. Emerging data indicate that paternal e...

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...

Objective: To describe six cases of possible partial ectopic posterior pituitary gland (PEPP) seen on head magnetic resonance imaging (MRI) and their associated clinical and endocrinological manifestations.Methods: This is a single-center case series, from a tertiary public university health center in Montreal, Canada. Cases of children with possible PEPP were selected prospectively from 2005 to 2017, based on head MRI findings. Medical history, exam fi...

Background: A multidisciplinary team (MDT) intervention may improve severe obesity in children through education and life-style change.Objective and hypotheses: MDT intervention leads to improvements in clinical measures of obesity.Method: Participants were selected by criteria: <16 years old; BMI >3.5SDS or BMI >2.5 SDS with obesity-related co-morbidity. Children and their families, attended intervention sessions over ...

Background: Controversial findings about the metabolic profile in newborns depending on the length of gestation and size at birth have been reported.Objective and hypotheses: Insulinemia, adiponectin, and leptin levels are different in children born prematurely and SGA neonates compared to term normal newborns.Method: 196 healthy newborns were studied at the age 3-4 days. Birth weight (BW), birth length (BL), BMI, ponderal index (P...

Background: Proteoglycans are abundant and structurally complex bio macromolecules. They reside on the cell surface and are a major component of the extracellular matrix including bone. Defective formation of proteoglycans may case pleiotropic connective tissue syndromes including EDS-like and Larsen syndrome–like phenotypes.Objective and hypotheses: We report on a girl with disproportionate short stature and joint laxity with pes planus and radial ...

Background: There is increasing recognition that the in utero environment might influence obesity risk.Objective and Hypotheses: We explored the hypothesis that smoking and alcohol consumption in pregnancy are associated with offspring body composition using the Southampton Women’s Survey mother-offspring birth cohort study.Method: At 34 weeks’ gestation, maternal smoking and any alcohol intake in the preceding 1...

Background: There is limited reporting of the impact of genital difference on early childhood experience, although the young person’s viewpoint should be at the core of patient centred clinical decision making. The experience of girls living with Congenital Adrenal Hyperplasia (CAH) may differ according to context, being influenced by interactions within the family, with specialist teams as well as prevailing social values. Clearly there is a need to inv...

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...