1 Hulse JA, Grant DB, Jackson D, Clayton BE. Growth, development, and reassessment of hypothyroid infants diagnosed by screening. BMJ 1982; 284:1435-7. 2 Abusrewil SSA, Tyfield L, Savage DCL. Serum thyroxine and thyroid stimulating hormone concentrations after treatment of congenital hypothyroidism. Arch Dis Child 1988;63:1368-71. 3 Germak JA, Foley TP. Longitudinal assessment of 1-thyroxine th...

Among 436 959 live infants born between 1970 and 1975 in Denmark were 72 (49 girls and 23 boys) who developed primary hypothyroidism, giving an incidence of 1 in 6064 live births. In the oldest group (6 to 8 years of age) the incidence was 1 in 5100. The age at diagnosis ranged from 1 week to 5 years 4 months; 10% were diagnosed within the first month, 40% within the first 3 months, and 70% wit...

This report describes monozygous twin girls with different forms of thyroid dysfunction. Twin A was found to have athyreotic hypothyroidism during the first week of life; twin B developed acute hyperthyroidism at 16 years of age. While concordance and discordance for congenital hypothyroidism has been reported in several sets of twins (Table I) there have been no prior reports of congenital hyp...

Purpose of developing the guidelines: Mass screening for congenital hypothyroidism started in 1979 in Japan, and the prognosis for intelligence has been improved by early diagnosis and treatment. The incidence was about 1/4000 of the birth population, but it has increased due to diagnosis of subclinical congenital hypothyroidism. The disease requires continuous treatment, and specialized medica...

Congenital Hypothyroidism is the commonest preventable cause of intellectual disability. Newborn screening with early identification and treatment has resulted in near normalisation of long term intellectual outcomes in the affected children. However, a number of issues still remain to be clarified. Firstly, while there has been a marked improvement in intellectual outcomes many studies have sh...

All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was established in 1987 as a program of the Health Ministry and is coordinated by the Istituto Superiore di Sanità. The early diagnosis performed by the n...

Congenital hypothyroidism affects about 1:3000-1:4000 infants. Screening programs now permit early recognition and treatment, thus avoiding the disastrous consequences of thyroid hormone deficiency on brain development. In about 85%, congenital hypothyroidism is associated with developmental defects referred to as thyroid dysgenesis. They include thyroid (hemi)agenesis, ectopic tissue and thyro...

The observation of Campbell and Price in 1979 that their Unit had diagnosed four subjects with both Klinefelter's syndrome and congenital hypothyroidism raised the suspicion of an association between the two conditions. This, and the published reports of an XX male, five XXY males, and one mosaic XY/XXY with congenital or acquired forms of hypothyroidism, together with the higher incidence in w...