Chief Guest 9M CME  

Case Report on Favourable outcome with r-FSH treatment and FSHR gene variant in Fertility Science and Research 2021.

Authored by Dr. Anuradha Udumudi and Dr. Narmada Katakam, the study demonstrates that r-FSH administration in a man with idiopathic infertility and severe OATS carrying homozygous N680N FSHR genotype resulted in improved sperm quality and reduced sperm DFI, eventually leading to conception in first cycle of ICSI. It was proposed that FSHR Ser680Asn genotype may serve as a clinically useful pharmacogenomic marker to identify good responders to r-FSH treatment. The paper discusses the duration and dosage of the treatment.

A study published in the American Journal of Human Genetics investigated the prevalence and impact of nonsense single nucleotide polymorphisms (SNPs) in the human genome. These variants introduce premature stop codons, potentially leading to truncated, nonfunctional proteins. By genotyping 805 nonsense SNPs across 1,151 individuals from 56 populations, researchers identified 169 genes with variable nonsense SNPs, with 99 genes showing inactivation in at least one individual. On average, individuals differed by 24 genes due to these SNPs alone. While most nonsense SNPs are slightly disadvantageous over evolutionary timescales, some may be advantageous, indicated by high population differentiation and frequency.