ESPE Abstracts

Background: Recent studies have analyzed the influence of perfluoroalkylated substances – PFAS (in particular PFOS and PFOA) on people and thyroid. Children are primaly affected by these pollutants. On the other side variation of incidence of congenital hypothyroidism (CH) has been shown in recent years by different studies. We sought to determine whether the incidence of CH in north-eastern Italy has changed in relation to some endocrine disruptors and t...

Background: Young children affected by Type 1 Diabetes (T1D) are prone to glucose fluctuations and hardly reach a stable glycometabolic control, especially when treated with a Multiple Daily Insulin Injections (MDI) scheme. The recent Real-Time Continuous Glucose Monitoring (RT-CGM) System, Dexcom G5, the only available device registered for non-adjunctive insulin intervention, potentially facilitates a better management of the disease. Evidence regarding CGM effectiveness amo...

Background: Vernal keratoconjunctivitis (VKC) patients have an elevated incidence of growth hormone deficiency and thyroid diseases. Nevertheless, no auxological data are available in these subjects.Objective and hypotheses: The purpose of this study was to evaluate the auxological features in a cohort of patients with VKC.Method: This study included 179 Caucasian VKC patients (119 males, 60 females; mean age 9.63±2.98 years) ...

Background: Down syndrome (DS) is the most common genetic (chromosomal) mental retardation syndrome. In these patients, several environmental and hormonal factors contribute to low bone mineral density (BMD), among these factors, vitamin D may play a significant role in the health of patients with DS. However, poor studies have evaluated 25-hydroxy cholecalciferol (25(OH)D) levels in DS.Objective and hypotheses: The purpose of this study was to assess se...

Background: Unlike precocious puberty, early and/or fast puberty have been less studied, despite the fact that this disorder may be associated to an organic lesion at CNS level.Objective and hypotheses: We illustrate a case of early and fast puberty in a girl with an occult intra-cranial tumor.Method: The girl was the first child of non-consanguineous, Italian parents. The family had a positive history of early puberty. Target heig...

Background: Short stature is defined as a height more than two standard deviations below the mean for age and sex. Pathologic causes of short stature include growth hormone deficiency, hypothyroidism, celiac disease, inflammatory bowel disease or other chronic diseases, hormonal abnormalities, and genetic disorders, such as Turner syndrome. Moreover, among other variants of short stature, scholarship also described familial short stature, constitutional delay ...

Introduction: Early identification of classic 21OH-Congenital Adrenal Hyperplasia (21OH-CAH) through newborn screening (NBS) is crucial to prevent adrenal crises, especially in males. Today 21 OH-CAH NBS is performed in 5/21 regions of Italy. This study aims to report the results of 21OH-CAH NBS in Italy from 2006 to 2019.Methods: All patients underwent a dried blood spot (DBS) test for 17OH-progesterone (17OHP) within t...

Background: Congenital Hypothyroidism (CH) is the most common neonatal endocrinologic disorder and one of the most preventable causes of mental retardation and neurological alterations in children. The incidence of CH lies between 1 in 2000-3000 newborns. The replacement therapy with levothyroxine (LT4) should be started immediately since studies show that a rapid normalization of TSH and fT4 optimizes the neurodevelopmental outcome. Infants with Down syndrome...

Background: In Italy monogenic forms of hyperglycemia account for more than 6% of cases referred to pediatric diabetes clinics. In January 2019 we started a Monogenic Diabetes Clinic (MDC) with the three main aims: a) implementing a standardized pathway towards genetic testing, 2) ease the revision of complex cases, 3) implement standardized therapies for monogenic diabetes mellitus (MDM) subtypes.Methods: Type 1 diabete...

Introduction: Since 2000 understanding of biology of sex development increased tremendously thanks to genetic research. This lead to new classification for persons with disorders/differences of sex development (DSD) based on genetics, and guidelines from the UK recommend revising medical care for persons with DSD by setting up interdisciplinary DSD teams. In Switzerland, persons with DSD asked for better care, stimulating the Swiss National Ethics Commission in 2012 to recomme...