Beatriz Carmona-Hidalgo, Carmen Martín-Gómez, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia-Nou Fontanet,José C. Moreno, juan Antonio Blasco-Amaro, Juliane Léger, Juan Dario-Ortigoza-Escobar, NKX2-1-Related Disorders Guideline Working Group.
Abstract
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.
Introduction
NKX2-1-related disorders (NKX2-1-RD, OMIM#610978), also known as Benign Hereditary Chorea (BHC), is a rare condition that affects the development and function of the lungs, thyroid, and brain.
Material and Methods
This study comprises the systematic reviews of two research questions reported following the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) statement [18] (S1 File).
Result
During the initial search, a total of 1012 records were located. After removing duplicates, 987 potentially relevant studies remained (649 in the first research question and 338 in the second one).
Discussion
This is the first comprehensive review of the evidence on endocrine disease screening and diagnostic methods in NKX2-1-RD patients. CH was the most common endocrinological manifestation in almost half of the patients, but neonatal screening detected only a small number.
Ackmowledgments
We express our gratitude to Rebeca Isabel-Gómez (Health Technology Assessment Area at AETSA, Andalusian Public Foundation for Progress and Health) and all the members of the NKX2-1-Related Disorders Guideline Working Group Working Group for their support in this article.
Citation: Carmona-Hidalgo B, Martín-Gómez C, Herrera-Ramos E, Rodríguez-López R, Fontanet L-N, Moreno JC, et al. (2024) Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis. PLoS ONE 19(7): e0303880. https://doi.org/10.1371/journal.pone.0303880
Editor: Desheng Liang, Central South University, CHINA
Received: December 30, 2023; Accepted: May 2, 2024; Published: July 11, 2024
Copyright: © 2024 Carmona-Hidalgo et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Data Availability: All relevant data are within the paper and its Supporting information files.
Funding: This study is supported by the European Commission within the contract SANTE/2018/B3/030-SI2.813822 under which the ERNs Guidelines Program is being developed. This work is produced within the framework of the European Reference Network for Rare Neurological Diseases, Project ID 739510. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Competing interests: The authors have declared that no competing interests exist.
Source: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0303880#abstract0
