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Review
. 2009 Dec;38(4):827-37.
doi: 10.1016/j.ecl.2009.08.005.

Update: newborn screening for endocrinopathies

Kenneth A Pass  1 , Eurico Carmago Neto
Affiliations
Review

Update: newborn screening for endocrinopathies

Kenneth A Pass et al. Endocrinol Metab Clin North Am. 2009 Dec.

Abstract

Congenital hypothyroidism and congenital adrenal hyperplasia are included in many newborn screening (NBS) panels worldwide and in all state-sponsored programs in the United States. Both conditions meet the fundamental prerequisites for NBS: high incidence in the population; biomarkers in the dried blood specimen that are easily detected; and, effective therapies to lessen, if not prevent, the sequelae of late or no treatment. In this review, the history of NBS is discussed for these 2 conditions. The technologies and protocols used in their detection, and related subjects such as genetics, and treatment and outcomes, are also discussed.

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