Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ


Nicholas A. K. , Serra E. G. , CANGÜL H., Alyaarubi S., Ullah I., Schoenmakers E., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.101, no.12, pp.4521-4531, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 101 Issue: 12
  • Publication Date: 2016
  • Doi Number: 10.1210/jc.2016-1879
  • Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.4521-4531

Abstract

Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken.