Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism.

ABSTRACT:

Objective

Guidelines on congenital hypothyroidism (CH) recommend that genetic testing should aim to improve diagnosis, treatment or prognosis, but it is unclear which patients would benefit most from genetic investigation. We aimed to investigate the genetic etiology of transient (TCH) and permanent CH (PCH) in a well-characterized cohort, and thereby to evaluate the impact of genetic testing on the management and prognosis of children with CH.

Methods

A total of 48 CH patients with normal, goitrous (n:5) or hypoplastic thyroid (n:5) were studied by high-throughput sequencing using a custom-designed 23-gene panel. Patients initially categorized as TCH (n:15), PCH (n:26) and persistent hyperthyrotropinemia (PHT, n:7) were re-evaluated after genetic testing.

Results

Re-

SUBMITTER: Kara C 

PROVIDER: S-EPMC10160543 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature