ESPE Abstracts

Background: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, with an incidence of 1:3000 neonates, and one of the most frequent preventable causes of mental retardation worldwide. Most (65%) cases of primary permanent CH are due to thyroid dysgenesis (TD). However, a genetic cause is identified in less than 5% of CH due to DT.Methods: We performed WES (Whole Exome Sequencing) for siblings with childhood-onset TD and we analy...

Background: GLIS3 is a transcription factor involved in the development of pancreatic β-cells, the thyroid, eyes, liver and kidneys. In the pancreas, GLIS3 is expressed at various stages of ductal and endocrine cell development, and is a critical regulator of β-cell development and insulin expression. Mutations in GLIS3 have been recently described as a rare cause of neonatal diabetes and congenital hypothyroidism (CH), reported in only 20 ...

Background: The ability to concentrate iodide actively is a characteristic feature of the thyroid gland. This function is mediated through the sodium iodine symporter (NIS), a glycoprotein located in thyrocytes’membrane. Iodide transport defect (ITD) by NIS defects can result in hypothyroidism with variable degree of goiter and low to absent radio iodide uptake. Mutations in SLC5A5 gene encoding NIS are reported to be a rare form of dyshormonogenetic congenital hypothyroi...

Background: The initial L-T4 dose currently recommended in the treatment of congenital hypothyroidism (CH) is 10–15 mcg/kg per day.Objective and hypotheses: We designed a multicenter randomized trial to evaluate the effects of different starting doses of L-T4 within the range 10–15 mcg/kg per day on neurocognitive development in children with CH.Method: Seventy-two children with CH diagnosed by neonatal screening were enr...

Background: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation in children, thus screening programs of CH have been established for better management of the disorder and preventing its related neurodevelopmental consequences. Evidences from different screening programs indicated that the rate of CH is higher in pre-term and low birth weight newborns than normal ones due to the incomplete development of hypothalamic–pituitary axis in ...

Background: The recommended capillary TSH cut-off level for neonatal screening for congenital hypothyroidism (CH) in the UK is 10 mIU/l. However several of the regional screening laboratories have adopted lower cut-off limits in order to increase detection sensitivity. There is now pressure to standardise the UK screening programme with universal adoption of the recommended cut-off. Scotland has been using a cut-off of 8 mIU/l since the adoption of AutoDELFIA TSH screening met...

Background: Trisomy 21 is associated with dysregulated pituitary thyroid axis with higher TSH and lower FT4 than controls. This may be due to genomic imbalance from trisomy of chromosome 21. Transient congenital hypothyroidism (CH) in newborns is recognised in association with maternal thyroperoxidase (TPO) antibody positivity. ‘Thyroid hormone resistance’ in infancy in CH is also been described.Objective and hypotheses: We report an...

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...

Background: The replacement therapy with levo-thyroxine (LT4) in congenital hypothyroidism (CH) aims to ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence.Objective and hypotheses: i) To evaluate LT4/kg per day requirement from diagnosis until 12 years of age; ii) to assess any differences in relation to the different etiology of CH as concern...

Background: Congenital hypothyroidism (CH) is the commonest congenital endocrine disorder in the world and also the commonest most preventable cause of mental retardation. Screening is mandatory in developed countries, but none exists in sub-Saharan country. We present a preliminary report of the first Nigerian screening for CH.Objective and hypotheses: To screen normal newborn babies in different regions in Nigeria and to determine the normal range of T...