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

Beatriz Carmona-HidalgoCarmen Martín-GómezEstefanía Herrera-RamosRocío Rodríguez-LópezLaia-Nou FontanetJosé C MorenoJuan Antonio Blasco-AmaroJuliane LégerJuan Dario Ortigoza-Escobarnull null

Published in: PloS one (2024)

This review highlights the need for standardized protocols in endocrine screening for NKX2-1-RD, emphasizing the importance of consistent methodology and hormone threshold levels. Variability in NKX2-1 gene variants further complicates diagnostic efforts. Future research should concentrate on optimizing early screening protocols and diagnostic strategies.

Keyphrases

systematic review
copy number
meta analyses
genome wide
quality improvement