ea0038oc5.5 | Thyroid and parathyroid | SFEBES2015
Nicholas Adeline K
, Serra Eva Goncalves
, Cangul Hakan
, Al-Yaarubi Saif
, Ullah Irfan
, Habeb Abdelhadi
, Deeb Asma
, Peters Catherine
, Dattani Mehul
, Shenoy Savitha
, Murray P G
, Puthi Vijith
, Park Soo-Mi
, Nathwani Nisha
, Babiker Amir
, Martin Howard
, Anderson Carl A
, Maher Eamonn
, Chatterjee V Krishna
, Schoenmakers Nadia
Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...