Pilot study for congenital hypothyroidism, preliminary report.
Preliminary results of a pilot study on congenital hypothyroidism performed on 8,025 newborns in Italy over a 10-month period are reported. The determination of both T4 and TSH on dried blood, spotted on filter paper, as screening procedure at day 3-5 of life revealed three cases of primary hypothyroidism and one case of hypo-thyroxin-binding-globulinemia (hypo-TBG-emia). The diagnosis of primary hypothyroidism was established on the basis of low T4 and high TSH levels in two of the three cases; in the third, with elevated TSH and normal T4 levels at screening, thyroid scintiscan showed an ectopic gland located at the base of the tongue. In the case of hypo-TBG-emia, low T4 and TBG levels were associated with normal TSH values. Some cases of transient hypothyroidism were observed in premature infants.
D003409:Congenital Hypothyroidism; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D008607:Intellectual Disability / Q000175:diagnosis / Q000517:prevention & control; D008297:Male; D008403:Mass Screening; D010865:Pilot Projects; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood
D013972:Thyrotropin; D013974:Thyroxine