ESPE Abstracts

Introduction: Endocrinopathies are common features of intracranial germ cell tumours (IC-GCTs), either as presenting symptoms caused by tumour itself or as side effects of treatments.Aims: We examined the development of endocrine dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow up.Methods: We collected clinical, radiological, histopathological and hormonal...

Introduction: Delays in diagnosis of IC-GCTs in the paediatric age have been frequently reported, affecting outcomes and prognosis.Aims: This study analysed clinical features of children with IC-GCTs treated at two European tertiary centres in the last 25 years. We retrospectively reviewed time lag between symptoms onset, radiological findings and definitive diagnosis of IC-GCT.Methods: Presenting ...

Introduction: A natiowide screening for Congenital Hypothyroidism (CH) was introduced 1996 in Russian Federation and Saratov Region. Revelation of the incidence of CH is of great value at the background of moderate iodine deficiency existing in Saratov and Saratov Region. Neonatal screening is an effective method for early detection of congenital hypothyroidism, a disorder that requires the prompt initiation of the treatment, in order to prevent the subsequent...

Background: Congenital hypothyroidism (CH) is the most important cause of preventable mental retardation. Therefore, screening programme has been using for early detection of hypothyroidism in our country since 2007.Objective: To compare clinical features of newborns with and without CH who were detected in screening programme between 2009 and 2014.Method: This study enrolled 710 (344 Girls) newborn referred from CH-screening progr...

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

Background: Congenital hypothyroidism (CH) is a condition that characterize by the deficiency in thyroid hormone. CH has a proximate prevalence of one in 4 000 newborns. Major CH cases were reported to be linked with mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes.Objective and hypotheses: The clinical presentation of CH patients caused by PAX8 mutations are variable and PAX8 mutation rates differ significantly among different p...

Background: Congenital hypothyroidism (CH) is a common endocrine disorder with a prevalence ranging from 1:2000 to 1:4000 newborns. The majority of CH cases were reported to be associated with mutations in several genes, which including the TSH receptor gene (TSHR).Objective and hypotheses: The aim of this study is to examine the frequency of TSHR gene mutations among CH patients in the Guangxi Zhuang Autonomous Region of China and to discover correlatio...

Introduction: Primary Congenital Hypothyroidism (CH) is an abnormal function of the thyroid gland present at birth. Anomalies of thyroid function are usually classified between thyroid dysgenesis, corresponding to an abnormal embryological development of the thyroid, and CH with gland-in-situ (GIS), resulting from mutations in genes involved in thyroid hormone synthesis. We report 105 patients with CH with GIS that have been referred to Angers University Hospi...

Introduction: The underlying genetic causes of congenital hypothyroidism with gland in-situ (CH GIS) and hyperthyrotropinemia (HT) remain largely a mystery. Thanks to NGS, genetic screening is now finding many novel variants. The challenge is to correctly identify which genes and which variants lead to CH and which cause only a transient HT.Objectives: Our objectives were to evaluate the presence of variants in 14 candid...

Background: Congenital hypothyroidism (CH) is an important and preventable cause of growth retardation and neurological deficit. Early treatment is crucial to minimize long term effects and today regimens tend to be more aggressive targeting hormonal control.Objective: To correlate CH severity at diagnosis with levothyroxine (LT) dosage and time needed to control TSH levels.Methods: Retrospective study including children with CH at...