Congenital Hypogonadotropic Hypogonadism Caused by Prokineticin Receptor 2 Rare Sequence Variants: Molecular Genetics, Clinical Phenotypes and Therapeutic Outcomes From a Single‐center Cohort

We observed a lack of evidence for a significant difference in reproductive phenotype or spermatogenic outcomes between male patients with congenital hypogonadotropic hypogonadism and PROKR2 rare sequence variants and those without identified rare sequence variants in congenital hypogonadotropic hypogonadism-associated genes, but this finding is critically limited by the small number of PROKR2 rare sequence variant carriers in our treatment cohort. The identification of a novel PROKR2 rare sequence variant expands the PROKR2 variant spectrum in patients with congenital hypogonadotropic hypogonadism.