Searchable abstracts of presentations at key conferences in endocrinology

ea0063gp63 | Reproductive Axis | ECE2019

A KISS1R gene variant in a pedigree with maternally inherited precocious puberty

Stefanija Magdalena Avbelj , Kovač Jernej , Yablonski Galia , Toromanović Alma , Phillip Moshe , Battelino Tadej , de Vries Liat

Background: The genetic causes of central precocious puberty (CPP) of clinical value identified to date are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Given that CPP is typically maternally inherited, however, the molecular genetic background in the majority of CPP cases remains unknown. Using candidate gene approach focused on genes regulating GnRH secretion and action so far exceedingly rare patients with CPP ...