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

Nicholas, Adeline; Serra, Eva; CANGÜL, HAKAN; Alyaarubi, Saif; Ullah, Irfan; Schoenmakers, Erik; Deeb, Asma; Habeb, Abdelhadi; Almaghamsi, Mohammad; Peters, Catherine; Nathwani, Nisha; Aycan, Zehra; SAĞLAM, HALİL; BÖBER, ECE; Dattani, Mehul; Shenoy, Savitha; Murray, Philip; Babiker, Amir; Willemsen, Ruben; Thankamony, Ajay; Lyons, Greta; Irwin, Rachael; Padidela, Raja; Tharian, Kavitha; Davies, Justin; Puthi, Vijith; Park, Soo-Mi; Massoud, Ahmed; Gregory, John; Albanese, Assunta; Pease-Gevers, Evelien; Martin, Howard; Brugger, Kim; Maher, Eamonn; Chatterjee, V.; Anderson, Carl; Schoenmakers, Nadia

doi:10.1210/jc.2016-1879

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 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 101 Issue: 12
Publication Date: 2016
Doi Number: 10.1210/jc.2016-1879
Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.4521-4531
Bursa Uludag University Affiliated: Yes

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.