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 i...

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)

Juvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy. Recently, the putative causative gene (LOC148738) encoding a protein designated hemojuvelin was cloned. The previously proposed designation of this gene as HFE2 is contrary to established convention, because it is not a member of the HFE family. We suggest ...