hrp0092p1-109 | Pituitary, Neuroendocrinology and Puberty | ESPE2019
Stefanija Magdalena Avbelj
, Kovac Jernej
, Gat-Yablonski Galia
, Bratina Nataa
, Omladič Jasna uput
, Phillip Moshe
, Battelino Tadej
, de Vries Liat
Background: The major genetic causes of CPP are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Exceedingly rare patients with CPP carry variants in kisspeptin system. The CPP genes are also associated with the age at menarche in the population as demonstrated by genome-wide association studies (GWAS). Nuclear Receptor Coactivator 5 (NCOA5) is a coregulator for the alpha and beta estrogen receptors a...