ESPE Abstracts

Background: A second screening for congenital hypothyroidism between the 2nd and the 4th weeks of life in preterm infants is recommended in order to avoid false negative on the first screening. The incidence of transient hypothyroidism in this population is high.Objective and hypotheses: i) Analyse the utility of the second screening in our population of preterm infants. ii) Follow-up of those preterm infants with hypothyroidism.Me...

Background: minipuberty (MP) consists in a postnatal activation of hypothalamic-pituitary-gonadal (HPG) axis, which occurs physiologically in both sexes during the first months of life. FSH and LH peak between 1 and 3 months, stimulating sex hormones secretion. In preterm infants, MP might lead to a stronger and more protracted hormonal stimulation, even if specific literature data are limited and not univocal. Immaturity of the hypothalamic feedback has been ...

Introduction: Use of continuous glucose monitoring (CGM) as a diagnostic tool for cystic fibrosis-related diabetes (CFRD) is receiving increasing attention. We aimed to: i) describe the glucose profile by CGM in CF patients >10 years of age; ii) compare CGM and oral glucose tolerance test (OGTT) results; and iii) evaluate lung function and nutritional status changes over the previous year.Methods: Prospective study of CF patients aged ≥10 years...

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: Nonalcoholic fatty liver disease (NAFLD) represents one of the most important chronic liver diseases and it is an important component of the metabolic syndrome in obese patients. As severity, it includes several clinicopathological entities such as simple steatosis, nonalcoholic fatty liver (NAFL), nonalcoholic steatohepatitis (NASH) and NASH cirrhosis.Aims of study: To evaluate the presence of NAFLD diagnose...

Background: Differentiated thyroid carcinoma has an incidence of 15.2 per 100 000 in adolescents. The clinical challenge is identifying nodules requiring further intervention. Current modalities, in isolation, have poor ability to reliably differentiate benign from malignant nodules.Objective and hypotheses: To derive and validate a predictive score that integrates clinical, laboratory, radiological and cytopathological parameters to define malignancy ri...

Background: Early life stress (ELS) are known to have a deleterious impact on health, but their potential long-term consequences on mortality remain to be assessed. World War 1 (WW1) has caused major stress and bereavement to millions of European mothers.Objectives and hypotheses: To compare the effects of a maternal stress occurring during intra uterine or in postnatal life upon long-term mortality.Patients: Thanks to recently dig...

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...

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