Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.

ABSTRACT:

Background

NKX2-1-related disorders (NKX2-1-RD) are rare conditions affecting lung, thyroid, and brain development, primarily caused by pathogenic variants or deletions in the NKX2-1 gene. Congenital hypothyroidism (CH) is a common endocrine manifestation, leading to irreversible intellectual disability if left untreated.

Objectives

The aim was to evaluate the current evidence for the use of screening and diagnostic techniques for endocrine alterations in patients with NKX2-1-RD.

Methods

This systematic review was reported following the PRISMA guidelines. Two separate research questions in PICO format were addressed to cover initial screening and diagnosis procedures for endocrine diseases in patients with NKX2-1-RD. Eligibility criteria focused on patients with genet

SUBMITTER: Carmona-Hidalgo B 

PROVIDER: S-EPMC11238965 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature