ESPE Abstracts

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

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, ...

Introduction: Differential diagnosis of partial central diabetes insipidus (PCDI) and primary polydipsia (PP) can be challenging. Copeptin is the C-terminal segment of the vasopressin precursor peptide that represents a novel and stable biomarker. Arginine infusion produces a nonosmotic stimulus that causes an increase in copeptin concentrations in healthy subjects. Arginine-stimulated copeptin concentrations have been used to differentiate between patients wi...

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...

Background: Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. This condition results from a constant and complex interplay between predisposing genes and environmental factors. To date, the molecular analysis are all focused on reproductive-endocrine disorders such as Kallmann syndrome and hypogonadotropic hypogonadism, while the genetic bases of pubertal timing are still unclear.<p ...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for 2–5% of all cases but it is underestimated because it’s often misdiagnosed as T1D or T2D whose symptoms are often overlapping. It is a phenotypically and genetically heterogeneous disorder characterised by autosomal dominant inheritance, a young age of onset and pancreatic β-cell dysfunction.Objective and hypotheses: Actually in about ...

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...

Obesity, with its complications, emerges as a major contributor to the global health burden becoming pandemic. It's an extremely complex disorder resulting of interaction of biological, social and behavioural factors that cause increase in food intake and reduction in energy expenditure. Although few monogenic forms and indeed several susceptibility loci have been described, the molecular basis underlying early onset obesity remain largely unknown. GWAS revealed consistent...

We report a pediatric patient with an undiagnosed and complex medical manifestation who was shown to have paternal isodisomy at chromosome 7. Our case is a female patient presented for increasing overweight, parotid hemangioma and gastroesophageal reflux with laryngomalacia. She was born at 35+4 weeks of gestation and her birth weight, length and occipitofrontal circumference (OFC) were 2500 g, 49 cm and 33 cm, respectively. At the time of our visit she was 16 months old, ...