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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Various clinical features have been prospectively evaluated in 18 infants with congenital hypothyroidism detected by the National Taiwan University Hospital screening program from January 1990 to May 1991. During the same period of time, 24 suspected cases with normal thyroid function at referral were similarly evaluated and used as controls. Among the various clinical features evaluated, there were statistically significant differences between the two groups for the following five items: feeding problems, constipation, dry skin, umbilical hernia and enlarged posterior fontanel. However, these findings were subtle and nonspecific. Even when the neonatal hypothyroid index (Quebec) was used for evaluation, only one-half of these hypothyroid babies had scores of more than two. On the other hand, there was a statistically significant difference in the thyroid function test between the two groups whether it was determined from the filter paper spot or the serum. Our observations clearly demonstrate the difficulty in establishing a diagnosis of congenital hypothyroidism on clinical grounds only at an early age of life. This study also emphasizes the importance of biochemical screening in the early detection and treatment of hypothyroid infants.
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PMID:Clinical characteristics of congenital hypothyroidism detected by neonatal screening. 809 21

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with an incidence of 1:2,000 to 1:4,000 live births and it is a leading preventable mental retardation. Neonatal Screening Programs allow early identification of the disease and the adequate treatment of affected children can avoid the complications related to deprivation of the hormone. Most cases of primary congenital hypothyroidism (85%) are due to thyroid dysgenesis (ectopia, hypoplasia or agenesis) while the remaining result from defects in hormone synthesis. Affected children (> 95%) usually have no symptoms suggesting the disease at birth. The most frequent symptoms and signs are prolonged neonatal jaundice, hoarse cry, lethargy, slow movements, constipation, macroglossia, umbilical hernia, large fontanelle, hypotonia and dry skin. Around the world, various strategies are used for the screening of the CH. In Brazil, screening for CH is mandatory by law and usually done by serum TSH in dried blood collected from the heel. The recommended age for performing this test is after 48 hours of life until the 4th day. Diagnostic confirmation is required dosing TSH and free T4 or total T4 in serum.
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PMID:Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism. 2368 Dec 64