Understanding the genetics of human infertility.
Qing Sang et al. Science 2023 4 (6641) 158-163
We review various aspects of human infertility, including etiology, mechanisms, and treatments, with a particular emphasis on genetics. We focus on gamete production and gamete quality, which is the core of successful reproduction. We also discuss future research opportunities and challenges to further expand our understanding of human infertility and improve patient care by providing precision diagnosis and personalized treatments.
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.