Objective: As GNRH1 genotype-phenotype correlation in CHH is not well studied, we aim to describe the GNRH1 variants in our CHH cohort and present a systematic review as well as genotype-phenotype analysis of all mutation-positive cases reported in the world literature. Design: This is a retrospective study of GNRH1 mutation-positive patients from a western Indian center. PRISMA guidelines-based PubMed search of the published literature of all GNRH1 mutation-positive patients was conducted. Setting: This study was conducted in an academic medical center.
Patient(s): This study included 2 probands from our cohort and 19 probands from the world literature. Main Outcome Measure(s): Demographic details, clinical presentation, biochemistry, imaging, treatment details, and genotypic data were recorded. Result(s): Two probands in our cohort carried two novel pathogenic biallelic GNRH1 variants…
