Searchable abstracts of presentations at key conferences in endocrinology

ea0073oc15.2 | Oral Communications 15: Late Breaking | ECE2021

Screening for mutations in isolated central hypothyroidism reveals a novel mutation in insulin receptor substrate 4 (IRS4)

Patyra Konrad , Kristiina Makkonen , Maria Haanpää , Karppinen Sinikka , Viikari Liisa , Jorma Toppari , Mary Pat Reeve , Kero Jukka

BackgroundCentral hypothyroidism (CeH) is a rare condition affecting approximately 1:16000 – 100 000 individuals. Congenital forms can harm the normal development if not detected and treated promptly. The clinical and biochemical diagnosis especially of the isolated CeH can be challenging. The cases are not usually detected in the neonatal screening, which, in most countries, are focused on detection of the more prevalent primary hypothyroidism. Unt...