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We describe 12 of 1130 infants with Down syndrome in whom various degrees of thyroid dysfunction were detected by neonatal screening. These aberrations were confirmed subsequently in 11 patients. In eight of 11 children, persistent primary hypothyroidism, was diagnosed, whereas in the remaining three patients transient thyroid abnormalities were noted. The twelfth patient died and could not be retested. We found an incidence of persistent primary congenital hypothyroidism in infants with Down syndrome of 1:141, or about 28 times more than in the general population. The cause of thyroid aberrations in these infants remains unclear; none of the studied patients had agenesis or ectopia of the thyroid gland. On initial screening most infants with Down syndrome had only mild biochemical abnormalities, with gradual decompensation occurring thereafter. Infants with Down syndrome are therefore at high risk for congenital hypothyroidism and should have careful follow-up to prevent further deterioration of their mental development or growth.
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
October 1984,
Pediatric research,
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
October 1983,
American journal of medical genetics,
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
January 2012,
Hormone research in paediatrics,
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
September 2015,
Expert review of endocrinology & metabolism,
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
January 1991,
Research in developmental disabilities,
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
May 1986,
American journal of diseases of children (1960),
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
December 2012,
Endocrinology and metabolism clinics of North America,
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
June 2023,
European journal of pediatrics,
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
February 1997,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie,
P Fort, and
F Lifshitz, and
R Bellisario, and
J Davis, and
R Lanes, and
M Pugliese, and
R Richman, and
E M Post, and
R David
December 1975,
Lancet (London, England),
