ESPE Abstracts

Background: Prevalence of childhood obesity represents a major public health concern, given the tracking of body weight from childhood to adult age and its health sequelae.Objective: To describe prevalence of overweight (OW) and obesity (OB) in children at 8 years and investigate the relationship with pre-pregnancy maternal weight and weight status at 4 years.Methods: 485 pregnant mothers recruited between 2004 and 2007 and 409 chi...

Context: Heterozygous mutations in TSH recepter (TSHR) have been described associated with mild TSH resistance characterized by non autoimmune hyperthyrotropinemia (NAH). The prevalence of this condition varies in different reports.Objective: To determine the prevalence of TSHR variants in pediatric NAH.Subjects and methods: Thirty-five non obese unrelated children with NAH (18 girls, aged 1–19 years) were enrolled. A...

Background: Cystic fibrosis is associated with abnormal lipid metabolism and this anormality is commonly characterized by low cholesterol and hypertriglyceridemia. The increasing in life expectancy of cystic fibrosis patients has enhancing the interest for prevent the risk factors for cardiovascular diseases like dyslipidemias.Objective and hypotheses: Determine whether concentrations of cholesterol and triacylglycerol are related to nutritional status a...

Aim: to assess and follow-up neck circumference and its relationship with a metabolic score in patients with abdominal obesity after a lifestyle intervention.Patients, Material and Methods: 122 children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a control randomized intervention study (NCT031472). Abdominal obesity was diagnosed using the waist circumference. The intervention included an...

Background: Endocrine-disrupting chemicals (EDCs) are serious and urgent threats to public health, due to the potentially serious adverse effects of EDCs on endocrine processes during susceptible periods of human development.Objective: To evaluate the levels endocrine disruptors at gestation.Material and methods: A pilot study. Data were obtained from 30 pregnant mothers recruited ...

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

Background: Persistent Müllerian Duct Syndrome (PMDS) needs to be considered in boys (46, XY) presenting with bilateral cryptorchidism or unilateral cryptorchidism associated with an inguinal hernia. Anti-Müllerian hormone (AMH) gene as well as Anti-Müllerian hormone Receptor (AMHR 2) gene mutations have been identified in PMDS boys.Aim and methods: To report a novel mutation in the AMHR 2 gene in monochorionic d...

Abstract unavailable....

Abstract unavailable....

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...