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Chapter-095a Neonatal Screening for Endocrine Disorders

BOOK TITLE: ESI Manual of Clinical Endocrinology

Author
1. Sarathi Vijaya
ISBN
9789351526476
DOI
10.5005/jp/books/12535_119
Edition
2/e
Publishing Year
2015
Pages
3
Author Affiliations
1. Vydehi Institute of Medical Sciences and Research Center, Bengaluru, Karnataka, India, Vydehi Institute of Medical Sciences and Research Center, Whitefield, Bengaluru, Karnataka, India
Chapter keywords
Congenital hypothyroidism, congenital adrenal hyperplasia, thyroid binding globulin, thyroid dysgenesis, hypothyroxinemia, neonatal Screening

Abstract

The criteria that are should be met for any disorder to be included in new born screening (NBS) programs are listed out in the chapter. Congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) appropriately fulfil these criteria and are among the most common congenital disorders that are included in most of the NBS programs worldwide. In congenital hypothyroidism (CH), thyroid dysgenesis accounts for 80-85% of permanent CH. Untreated CH leads to mental retardation. Improvements in screening and therapy have led to improved developmental outcomes in adults with CH. The screening protocol and technology along with the improvement of screening are described for CH. Congenital adrenal hyperplasia is most commonly caused by steroid 21-hydroxylase deficiency (21OHD). Congenital adrenal hyperplasia is a monogenic, autosomal recessive disorder. It can occur in two forms: a severe classic form and a mild nonclassic form. As of for CH, the incidence, false positive results, screening protocols, and techniques are well explicated in the chapter.

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