Congenital central hypothyroidism plusminus ACTH or growth hormone deficiency: etiology and outcome

Completed

• Conditions: 10014699; 10021112; absent stimulation of thyroid; Congenital hypothyroidism of central origin

• Registration Number: NL-OMON47244
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 23 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 170

Inclusion Criteria

Permanent congenital hypothyroidism of central origin detected by the neonatal screening between 1-1-1995 and 1-1-2015.

Exclusion Criteria

Transient congenital hypothyroidism of central origin (e.g. due to (untreated) maternal Graves disease).

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>1: Mortality rate<br /><br>2: Cognitive outcome: school results compared to average CITO test scores and<br /><br>compared to siblings<br /><br>3: DNA analysis: prevalence of Igsf1 mutations in the subgroup of children with<br /><br>isolated CH-C, results of whole exome sequencing.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>not applicable</p><br>