ESPE Abstracts

Background: The approach to clinical management of Graves’ disease (GD) is debatable.Objective: This study aimed to identify predictors of remission in pediatric GD.Methods: A longitudinal study of 36 children and adolescents with Graves’ disease followed from 1997 to 2017 at a single pediatric tertiary hospital was performed. Clinical and biochemical parameters, including comorbidities, treatment with anti-thyroid drugs ...

Background: Newborn screening for CAH is effective in identifying the severe cases; however, the high rate of false-positive (FPR) results remains an important issue. Therefore, positive neonatal results must be confirmed by serum 17OHP levels, which present a great overlap among all forms.Objective and hypotheses: To evaluate the utility of molecular analysis to improve CAH diagnosis in NBS program.Method: Between 1999 and 2014, 8...

Background: Vitamin D is a pleiotropic hormone the deficiency of which is related with extraskeletal manifestations such as insulin resistance and cardiovascular risk disease.Objective and hypotheses: To investigate the levels of VitaminD in a sample of children with obesity and to evaluate the relationship between carbohydrate metabolism and metabolic syndrome (MS).Method: In this prospective cross-sectional study, 189 children ag...

Background: Shox gene, located on the short arm (p) of the X chromosome, is expressed in the growth plate cartilage in pre and post natal life. Whereas the dose dependent association between the number of active copies of the SHOX gene and height is well established, studies addressing a more subtle variability between the quality of fetal growth, the severity of post natal height deficit and karyotype subgroups in Turner syndrome (TS) are still limited....

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...

NASH is an increasingly relevant finding in the pediatric population affected by obesity. In adults, the evolution of this steatosis towards fibrosis and correlation with metabolic syndrome is increasingly significant. The existence of a rapid and validated in-office screening tool would be very useful.Main Objective: To evaluate whether the measurement of intraperitoneal fat measured through nutritional ultrasound allows for the diagnos...

Congenital panhypopituitarism is a rare cause of impaired metabolism in early infancy. Many guidelines for neonatal hypoglycemia include evaluation of pituitary hormones, but other parameters of metabolism (either mineral, lipid or hepatic) are rarely taken into consideration and don’t regularly suggest hormonal investigation. Therefore the diagnosis of multiple hormonal deficiencies is often late at that age. Although many reports point to the impaired bile discharge, a...

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...

Background: Craniopharyngiomas (CPs) are benign brain tumours that intimately involve pituitary and, often, hypothalamus. Here, primary clinical conundrum is choosing between gross total resection and preserving endocrine functions. Robust predictors of recurrence are much needed, but require a deeper understanding of the molecular basis of CPs. Multiple studies show that CTNNB1 (β-catenin) somatic mutations drive the adamantinomatous subtype ...

Background: Pseudopseudohypoparathyroidism (PPHP) is a rare variant of pseudohypoparathyroidism (PHP) type I, with typical anatomical abnormalities known as Albright's hereditary osteodystrophy (AHO)(short stature, brachydactyly particularly involving metacarpals and metatarsals, round face, stocky build, ectopic ossifications and a number of possible associated defects), but with normal calcium, phosphate and PTH levels and normal response to exogenous PT...