Clinical and genetic characterization of familial central precocious puberty.
Flávia Rezende TinanoAna Pinheiro Machado CantonLuciana R MontenegroAndrea de Castro LealAline G FariaCarlos Eduardo SeraphimRaja BraunerAlexander A JorgeBerenice B MendoncaJesús ArgenteVinicius N BritoAna Claudia L XavierPublished in: The Journal of clinical endocrinology and metabolism (2023)
We demonstrated a similar prevalence of familial CPP with maternal and paternal transmission. MKRN3 and DLK1 loss-of-function mutations were the major causes of familial CPP with paternal transmission.