ESPE Abstracts

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: Testicular atrophy is a rare complication following inguinal hernia repair particularly in children<2 years and those with an undescended testis at highest risk> with an undescended testis. Inhibin B is secreted from the testis as a product of Sertoli cells, and has been suggested as a good marker for spermatogenesis. Its value is expected to be very low in children with bilateral testicular atrophyCase Report...

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 ...

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 & Objective: Hyperinsulinism-Hyperammonaemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism (CHI) in outbred populations. HI/HA is caused by an activating mutation in the GLUD1 gene which encodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).The aim of this study was to determine the clinical presentation, treatment and risk factors of neuro-developmental disorders in ...

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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Background: To diagnose non classical congenital adrenal hyperplasia (NCCAH) and adrenal insufficiency (AI), current guidelines recommend ACTH test. Cutoffs for 17 hydroxyprogesterone (17OHP) and cortisol are derived from immunoassays values. Thanks to a recently developed and validated mass spectrometry approach (LC-MS/MS) we routinely quantify simultaneously 16 circulating steroids and we are able to speculate on new cut off values and uses.<p class="abs...