Congenital Hypothyroidism

Lead investigator 

Dr Rachel Knowles
MRC Centre of Epidemiology for Child Health
UCL Institute of Child Health
30 Guilford St
London
WC1N 1EH

Email: r.knowles@ich.ucl.ac.uk

Overview

• This UK study aims to determine how many babies and children up to and including five years of age are found each year to have primary congenital hypothyroidism (CHT), diagnosed subsequent to a presumed positive newborn screening test or because of clinical manifestations.
• We will describe their characteristics, diagnostic tests and initial treatment. We will collect additional information about each child’s health after one and two years, particularly to define transient cases.
• In a population covered by newborn screening, this study will enable us to determine the incidence and characteristics of children diagnosed with primary congenital hypothyroidism, the proportion and outcomes of those detected by screening, as well as to describe variations in clinical management and care.

Duration: June 2011 – June 2012 (13 months of surveillance). Follow-up until June 2014.

Coverage: UK Only 

Funding: UKNHS Newborn Screening Programme Centre (Department of Health)

Ethical approval: This study has been approved by Cambridge South REC (Ref: 11/EE/0152) and has been granted Section 251 NIGB permission under reference: ECC 3-04(k)/2011.

Further Information

• Study Protocol (PDF, 122KB, 2 pages)
• Study Flyer (PDF, 53KB, 1 page)
• Questionnaire - Clinicians (MS Doc, 1MB, 6 pages)
• Questionnaire - Labs (MS Doc, 312KB, 4 pages)
• Public Information Leaflet (PDF, 118KB, 2 pages)