Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.

Virendra A PatilAnurag Ranjan LilaNalini ShahSneha AryaAlka V EkboteVijaya SarathiRavikumar ShahSwati S JadhavSaba Samad MemonTushar Bandgar

Published in: Pituitary (2022)

(s): The global molecular diagnosis rate was 23.2% in nCHH cohorts whereas that in our cohort was 35% with a higher rate (44.7%) in those with severe reproductive-phenotype. The most commonly affected gene in nCHH patients was FGFR1 globally while it was PROKR2 in East Asia and GNRHR in India.

Keyphrases

systematic review
end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
meta analyses
randomized controlled trial
early onset
gene expression
copy number
dna methylation
patient reported outcomes
transcription factor