Article
Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty.
Italian journal of pediatrics - 7 Jan 2021
Aiello Francesca, Cirillo Grazia, Cassio Alessandra, Di Mase Raffaella, Tornese Gianluca, Umano Giuseppina R, Miraglia Del Giudice Emanuele, Grandone Anna
Abstract excerpt
BACKGROUND: Prokineticin receptor 2 (PROKR2) loss of function mutations have been described as cause of hypogonadotropic hypogonadism. In 2017, a first case of central precocious puberty (CPP) caused by PROKR2 heterozygous gain of function mutation was described in a 3.5 years-old girl. No other cases have been reported yet. This study performs a molecular screening in girls with early onset CPP (breast budding...
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