Landscape of pathogenic mutations in premature ovarian insufficiency.
Hanni Ke et al. Nature medicine 2023 2
Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of ovarian function. POI is a heterogeneous condition, and its molecular etiology is unclear. To identify genetic variants associated with POI, here we performed whole-exome sequencing in a cohort of 1,030 patients with POI. We detected 195 pathogenic/likely pathogenic variants in 59 known POI-causative genes, accounting for 193 (18.7%) cases.
Declining Male Sperm Count Is at a Global Crisis Level
Medscape, January 30, 2023
A meta-analysis of sperm count in men on six continents shows an alarming decline that continues to accelerate, according to an international team of researchers. Overall, there is a significant worldwide decline in sperm counts of more than 50% in the past 46 years, a decline that has accelerated in recent years. Sperm count declines among men from South and Central America, Asia, Africa, North America, Europe, and Australia have accelerated in the last 5 years.
Development of a Model to Estimate the Optimal Number of Oocytes to Attempt to Fertilize During Assisted Reproductive Technology Treatment.
Correia Katharine F B et al. JAMA network open 2023 1 (1) e2249395
In this national registry–based diagnostic study, in 66.2% of cycles among patients younger than 38 years, fewer than all retrieved oocytes could be exposed to sperm to minimize the number of unused embryos while optimizing the probability of a live birth. These findings suggest the developed prediction tool could reduce the number of unused embryos created and immediately address current patient and clinician concerns.
Diverse monogenic subforms of human spermatogenic failure
L Nagirnaja et al, Nat Comms, December 26, 2022
In this study, we exome-sequenced over 1000 clinically diagnosed NOA cases and identified a plausible recessive Mendelian cause in 20%. We find further support for 21 genes in a 2-stage burden test with 2072 cases and 11,587 fertile controls. The disrupted genes are primarily on the autosomes, enriched for undescribed human “knockouts”, and, for the most part, have yet to be linked to a Mendelian trait.