ESPE Abstracts

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...

Introduction: Identifying the nutritional diagnosis of adolescents is crucial for developing public health strategies that promote the adequate development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2021.Methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The preval...

Background: Prolonged poor dietary habits can result in hypothalamic inflammation and gliosis with more recent studies suggest that other brain areas may also be affected. Western or high fat diet intake has been associated with increased cognitive impairment and aberrant feeding behavior, with males and females being differentially affected. The hippocampus participates in both of these functions. Saturated free fatty acids can induce astrocyte inflammation and this could pot...

Background: The mitochondrial enzyme nicotinamide nucleotide transidrogenase (NNT) is essential in the antioxidant defense mechanisms and appears to be essential to the stages of adrenal steroidogenesis that occur inside the mitochondria.Aim: To characterize how mutations in NNT gene impair adrenal steroidogenesis resulting in familial glucocorticoid deficiency (FGD).Methods: Genom...

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: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

Background: Neonatal diabetes (NDM) is defined as diabetes developing before 6 months of age, affecting one in 100 000 live births. Permanent NDM is diagnosed in the first 6 months of life with no remission. The majority have a mutation in the ATP-sensitive potassium (KATP) channel (KCNJ11 in 31%, ABCC8 in 13%). Autosomal dominant and recessive forms are described. The majority of patients with NDM caused by KATP mutations respond to sulphonylureas.<p...