Meiotic Cohesin and Variants Associated With Human Reproductive Aging and Disease.

Successful human reproduction relies on the well-orchestrated development of competent gametes through the process of meiosis. The loading of cohesin, a multi-protein complex, is a key event in the initiation of mammalian meiosis. Establishment of sister chromatid cohesion via cohesin rings is essential for ensuring homologous recombination-mediated DNA repair and future proper chromosome segregation. Cohesin proteins loaded during female fetal life are not replenished over time, and therefore are a potential etiology of age-related aneuploidy in oocytes resulting in decreased fecundity and increased infertility and miscarriage rates with advancing maternal age. Herein, we provide a brief overview of meiotic cohesin and summarize the human genetic studies which have identified genetic variants of cohesin proteins and the associated reproductive phenotypes including primary ovarian insufficiency, trisomy in offspring, and non-obstructive azoospermia. The association of cohesion defects with cancer predisposition and potential impact on aging are also described. Expansion of genetic testing within clinical medicine, with a focus on cohesin protein-related genes, may provide additional insight to previously unknown etiologies of disorders contributing to gamete exhaustion in females, and infertility and reproductive aging in both men and women.

Association of Concussion With Abnormal Menstrual Patterns in Adolescent and Young Women.

Importance: Brain injury may interrupt menstrual patterns by altering hypothalamic-pituitary-ovarian axis function. Investigators have yet to evaluate the association of concussion with menstrual patterns in young women. Objective: To compare abnormal menstrual patterns in adolescent and young women after a sport-related concussion with those after sport-related orthopedic injuries to areas other than the head (nonhead). Design, Setting, and Participants: This prospective cohort study of adolescent and young women with a sport-related concussion (n = 68) or a nonhead sport-related orthopedic injury (n = 61) followed up participants for 120 days after injury. Patients aged 12 to 21 years who presented within 30 days after a sport-related injury to a concussion or sports medicine clinic at a single academic center were eligible. Menstrual patterns were assessed using a weekly text message link to an online survey inquiring about bleeding episodes each week. The first patient was enrolled on October 14, 2014, and follow-up was completed on January 24, 2016. Inclusion criteria required participants to be at least 2 years postmenarche, to report regular menses in the previous year, and to report no use of hormonal contraception. Exposures: Sport-related concussion or nonhead sport-related orthopedic injury. Main Outcomes and Measures: Abnormal menstrual patterns were defined by an intermenstrual interval of less than 21 days (short) or more than 35 days (long) or a bleeding duration of less than 3 days or more than 7 days. Results: A total of 1784 survey responses were completed of the 1888 text messages received by patients, yielding 487 menstrual patterns in 128 patients (mean [SD] age, 16.2 [2.0] years). Of the 68 patients who had a concussion, 16 (23.5%) experienced 2 or more abnormal menstrual patterns during the study period compared with 3 of 60 patients (5%) who had an orthopedic injury. Despite similar gynecologic age, body mass index, and type of sports participation between groups, the risk of 2 or more abnormal menstrual bleeding patterns after injury was significantly higher among patients with concussion than among those with an orthopedic injury (odds ratio, 5.85; 95% CI, 1.61-21.22). Conclusions and Relevance: Adolescent and young women may have increased risk of multiple abnormal menstrual patterns after concussion. Because abnormal menstrual patterns can have important health implications, monitoring menstrual patterns after concussion may be warranted in this population. Additional research is needed to elucidate the relationship between long-term consequences of concussion and the function of the hypothalamic-pituitary-ovarian axis.

Adolescent gynecology: special considerations for special patients.

Developments in the field of adolescent gynecology highlight the specific expertise and care required by this population. Given the ability to shape their future health choices, adolescents are a critical target for preventative health care. The approach to the evaluation and management of this unique population rests not only on the practitioner's adept ability to recognize the unique clinical challenges that may occur, but also rests on his/her understanding of these problems. Here, we review recent guidelines and practice patterns in the evaluation and management of issues in adolescent gynecology.