MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.
Francesca AielloStefania PalumboGrazia CirilloGianluca TorneseDaniela FavaMalgorzata Gabriela WasniewskaMaria Felicia FaienzaMauro BozzolaC LuongoAdalgisa FestaEmanuele Miraglia Del GiudiceAnna GrandonePublished in: Journal of endocrinological investigation (2023)
MKRN3 defect in patients with CPP cannot be predicted by MKRN3 circulating levels, although those patients presented lower protein levels than iCPP. Due to the great inter-individual variability of the assay and the lack of reference values, no precise cut-off can be identified to suspect MKRN3 defect.