ESPE Abstracts

Background: In children, untreated Congenital Hypothyroidism (CH), can result in permanent neurological defects and growth abnormalities. This can be prevented by early detection and treatment of CH. Newborn screening for CH is considered one of the best tools for the prevention of these long-term complications. In our setting, we use heel-stick dried blood sample TSH (DBS-TSH) as a screening tool to detect CH. The DBS-TSH cut-off level is critical to ensuring...

Introduction: Maternal thyroid disease is considered as a risk factor for abnormal thyroid function at birth as well as for long-term morbidity in offspring. The potential harmful effects on the neonate had led to the clinical practice of thyroid function assessment in infants born to mothers with thyroid disease during pregnancy, despite well-established newborn screening programs with include congenital hypothyroidism screening. We evaluated the usefulness o...

Background: Given the absence of a systematic evaluation of general public’ attitudes towards the storage and use of newborn screening (NBS) blood samples for research in China, we firstly conducted this internet-based survey to explore these issues.Methods: We conducted a national-based internet survey with self-designed questionnaire. We mainly studied three categories: 1) the willingness to have their children’s residual NBS samples used for...

Background: The term congenital hypothyroidism was introduced more than 60 years ago when Radwin et al. first described children with hypothyroid-associated features of severe intellectual disability and growth retardation. It is the most common endocrine congenital disorder and preventable cause of mental retardation. Newborn screening programs are an efficient tool for the secondary prevention of mental retardation associated with untreated congenital hypothyroidism...

Background: Screening for congenital hypothyroidism (CH) in the Russian Federation started in 1994. A survey was conducted in 1994 on the basis of 32 laboratories, and since 2007 newborn screening is being carried out in 79 laboratories of 83 regions of the Russian Federation.Objective and hypotheses: To study the prevalence of CH in Russia and in different regions of the Russian Federation.Method: Official statistics on CH screeni...

Background: Sufficient iodine intake is required for the synthesis of thyroid hormone. Thyroid hormone is very important for normal growth and development, especially in newborn period. It is also well known that excess iodine intake may cause adverse effect in thyroid function.Objectives and hypotheses: This study was designed to find the iodine status of the newborn with normal thyroid function confirmed by newborn screening of thyroid function test (T...

Background: Mild isolated neonatal hyperthyrotropinaemia (HTT), defined as elevated thyroid stimulating hormone (TSH) with normal free thyroxine (FT4) concentrations, may be identified by newborn screening programmes for congenital hypothyroidism (CHT) or when neonatal thyroid function tests (TFTs) are performed for a clinical indication. Reported HTT incidence rates vary (from 0.001-0.1%)1. Case definition also varies, with some authors using a TSH...

Background: Approximately one baby in 2000-3000 is born with congenital hypothyroidism (CHT). Newborn screening of CHT is conducted in different countries by the measurement of either thyroid stimulating hormone (TSH) of free thyroxine (FT4) or both. Whereas most Western countries screened CHT by using a blood spot collected on day 3 to 5 of life, some countries' programmes measure umbilical cord blood TSH or FT4 for the screening of CHT. In our maternity ...

Objective: To highlight the clinical characteristics and early genetic diagnosis of Schaaf-Yang syndrome (SYS).Methods: Three cases were reported and related literature were reviewed.Results: All the three patients were diagnosed with Schaaf-Yang syndrome attributing to the variation of MAGEL2 gene. Two of the patients predominantly presented as "language dysplasia&#34...

Background: TSH cut-off (CO) levels has been lowered progressively in many screening programs. Nevertheless, population detected with lower CO levels differs in severity and etiology.Objective and hypotheses: To describe the etiological characteristics and severity of children detected by neonatal screening related to CO TSH levels.Method: We analysed the data of congenital hypothyroidism (CH) neonatal screening performed between J...