O Koulouri, A K Nicholas, E Schoenmakers, J Mokrosinski, F Lane, T Cole, J Kirk, I S Farooqi, V K Chatterjee, M Gurnell, N Schoenmakers
CONTEXT: Isolated central congenital hypothyroidism (CCH) is rare and evades diagnosis on TSH-based congenital hypothyroidism (CH) screening programs in the United Kingdom. Accordingly, genetic ascertainment facilitates diagnosis and treatment of familial cases. Recognized causes include TSH β subunit (TSHB) and Ig superfamily member 1 (IGSF1) mutations, with only two previous reports of biallelic, highly disruptive mutations in the TRH receptor (TRHR) gene. CASE DESCRIPTION: A female infant presenting with prolonged neonatal jaundice was found to have isolated CCH, with TSH of 2...
March 2016: Journal of Clinical Endocrinology and Metabolism