exudates and Hypothyroidism

Clinical diagnosis of congenital hypothyroidism (CH) is difficult at birth without neonatal screening. In line with the priorities of the national health services in Malaysia towards preventive medicine, early diagnosis and treatment of CH is emphasised. We conducted a pilot study at Kuala Lumpur's Maternity Hospital between April 1995 and November 1995 to estimate the incidence of CH and also evaluated the problems associated with large-scale neonatal screening using a commercial TSH kit on cord bloodspots.. A total of 11,000 newborns were screened using cord blood spots taken at birth.. Two hundred and fifty newborns (2.27%) hand cord TSH > 20 mlU/L and had to be recalled for re-evaluation. Of these, 4 had cord TSH of > 100 mlU/L; three were confirmed to have congenital hypothyroidism and one had transient hyperthyrotropinaemia. Our study estimated the incidence of CH to be one in 3,666 live births in Kuala Lumpur, Malaysia. Clinical features of hypothyroidism are subtle during the early weeks of life. However, prolonged neonatal jaundice (3/3), widely opened posterior fontanelle (3/3) and dry skin (3/3) were the common features in all our cases by 2-6 weeks of life.. This study suffered a high dropout rate. Twenty-six percent of the patients were not traceable after discharge and 48% did not respond to our recall. We stress the importance of public education and awareness in contributing to the cost-effectiveness of the screening program.

Topics: Congenital Hypothyroidism; Female; Fetal Blood; Humans; Hypothyroidism; Incidence; Infant, Newborn; Malaysia; Male; Neonatal Screening; Pilot Projects; Reagent Kits, Diagnostic; Thyrotropin

The FOXE1 gene was screened for mutations in a cohort of 34 unrelated patients with congenital hypothyroidism, 14 of whom had thyroid dysgenesis and 18 were normal (the thyroid status for 2 patients was unknown). The entire coding region of the FOXE1 gene was PCR-amplified, then analyzed using single-stranded conformational polymorphism, followed by confirmation by direct DNA sequencing. DNA sequencing analysis revealed a heterozygous A>G transition at nucleotide position 394 in one of the patients. The nucleotide transition changed asparagine to aspartate at codon 132 in the highly conserved region of the forkhead DNA binding domain of the FOXE1 gene. This mutation was not detected in a total of 104 normal healthy individuals screened. The binding ability of the mutant FOXE1 protein to the human thyroperoxidase (TPO) promoter was slightly reduced compared with the wild-type FOXE1. The mutation also caused a 5% loss of TPO transcriptional activity.

Topics: Adenine; Amino Acid Sequence; Animals; Cohort Studies; Congenital Abnormalities; DNA Primers; Forkhead Transcription Factors; Gene Amplification; Genes, Reporter; Guanine; Hep G2 Cells; Humans; Hypothyroidism; Malaysia; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Polymorphism, Single-Stranded Conformational; Promoter Regions, Genetic; Reference Values; Sequence Alignment; Sequence Homology, Amino Acid; Thyroid Dysgenesis; Transfection