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Context Polycystic ovary syndrome (PCOS) affects 10% of women of reproductive age. The genetic architecture of the disease is emerging, but there is little data exploring the effect of genetic risk on clinical presentation. Objective We hypothesized that genetic risk loci would influence measurable phenotypic traits. Methods This retrospective cohort study, conducted at an academic medical center, included women of European ancestry with PCOS (n = 404), as diagnosed by the National Institutes of Health criteria, and controls with regular menses and no hyperandrogenism (n = 408). We identified association between genetic risk variants and measured phenotypic traits using linear regression. Results In a combined analysis of cases and controls, 2 variants in loci containing the genes PRSS23 (P <.001) and FSHB (P <.001) were associated with gonadotropin levels. Two variants in loci containing NEIL2/GATA4 (P =.002) and CYP3 (P <.001) were associated with androgen levels. Three variants in loci containing SHBG (P =.001), ZBTB16 (P <.001), and CYP3 (P <.001) were associated with ovarian morphology. One variant in the locus containing FTO (P =.001) was associated with hip circumference and was influenced by body mass index. Conclusion These results demonstrate that PCOS genetic risk variants may influence hormone levels and ovarian morphology and increase the risk of obesity. Increased genetic risk for PCOS appears to drive traits that underly the classical clinical presentation of PCOS. [ABSTRACT FROM AUTHOR]

The development of in vitro gametogenesis (IVG) in the mouse opened up unforeseen possibilities for assisted reproduction. The development of this technology to be used in cattle production could accelerate the rate of genetic selection by dramatically reducing the generation interval, while decreasing the environmental impact of livestock production as the need to grow animals in the process of genetic selection would be reduced or even eliminated. Although several steps of the process of IVG such as in vitro oocyte maturation and fertilization, and embryo production are already routinely performed in cattle, other steps of the system such as in vitro follicle and oocyte development are still rudimentary. The stable derivation of bovine pluripotent stem cells is the starting point without which IVG cannot be realized. However, producing a primordial germ cell and taking this cell through oogenesis and folliculogenesis in a dish will require a more detailed understanding of the milestones that need to be accomplished in vivo before they can be recapitulated in vitro. In particular, understanding the regulatory circuitry of germ cell specification in the embryo, the timing and events related to development of the germ cell program, and the factors necessary to make a competent egg, will need to be uncovered. Here, we review the process of IVG and provide a brief description of the current advances and bottlenecks related to in vitro oogenesis and folliculogenesis in cattle. Finally, we provide a brief comparison between mice and cows in this regard. Producing eggs and sperm in the laboratory is a novel technology that has the potential to reduce the impact of animal agriculture on our planet and accelerate the genetic improvement of cattle. However, there are many pieces of information that we still need to learn about how cows reproduce before we can take advantage of this technology. Recent scientific advances are helping fill these gaps and should lead us toward more efficient and sustainable agriculture. Image by Anna C. Denicol. This article belongs to the Collection: Proceedings of the Annual Conference of the International Embryo Technology Society, Fort Worth, TX, USA, 18–22 January 2025. [ABSTRACT FROM AUTHOR]

Since the discovery in 2009 that missence pathogenic variants/mutations in FOXL2 are extremely common in ovarian adult granulosa cell tumours, the last 2 decades have witnessed significant developments in our understanding of the molecular events underlying the pathogenesis of other ovarian sex cord-stromal tumours (SCSTs). In this review, we cover the molecular events in ovarian SCSTs and provide practical guidance to the reporting pathologist as to how and when molecular testing may be useful in diagnosis. We stress the need to correlate the morphology and molecular since most of the molecular events are not entirely specific for a particular tumour type and our knowledge is continually evolving with the elucidation of "new" molecular events. We also discuss that in some tumours, molecular testing is helpful in triaging the patient for genetic referral and germline testing since some of the molecular events may be germline in nature., Competing Interests: The authors have no funding or conflicts of interest to disclose., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)