Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty

Abstract Background Prokineticin receptor 2 ( PROKR2 ) loss of function mutations have been described as cause hypogonadotropic hypogonadism. In 2017, a first case central precocious puberty (CPP) caused by heterozygous gain mutation was in 3.5 years-old girl. No other cases reported yet. This study performs molecular screening girls with early onset CPP (breast budding before 6 years age) to identify possible alterations . Methods We analysed DNA 31 idiopathic diagnosed via basal LH levels > 0.3 IU/L or peak-LH 5 after stimulation, without any MKRN3 mutations. The Fisher exact test used compare polymorphism allele frequency corresponding ones genome aggregation database (gnomAD). Results rare variants were identified. Five polymorphisms found (rs6076809, rs8116897, rS3746684, rs3746682, rs3746683). All except one (i.e. rs3746682) had minor (MAF) similar that literature. rs3746682 presented MAF higher than the gnomAD (0.84 our cohort vs 0.25 from gnomAD). Conclusions As for G protein-coupled receptors GPR54), do not seem be frequent girls.