An update on epigenetic mechanisms in endometriosis.

The etiopathogenesis of endometriosis, a chronic debilitating disease affecting nearly 10% of women, has evaded elucidation until the recent epigenetic discoveries. Although still deemed multifactorial, endometriosis is likely predisposed in women with genetic and epigenetic alterations, which are activated by environmental factors. There are many epigenetic changes that have recently been associated with endometriosis: DNA methylation and phosphorylation, modifications to histones and non-coding RNA, and chromatin remodeling and organization.

Initiation and outcomes of women pursuing planned fertility preservation.

Objective: To study cycle outcomes of women who choose to pursue oocyte cryopreservation, using published age-specific oocyte recommendations.

Design: Retrospective cohort.

Setting: Clinic.

Spontaneous conception in a 40-year-old woman after allogeneic stem cell transplant with active graft-versus-host disease: A case report.

This article presents a case of spontaneous conception and live birth in a 40-year-old woman who had undergone gonadotoxic chemotherapy and allogenic stem cell transplant for relapsed acute myelogenous leukemia complicated by treatment-refractory graft-versus-host disease. The patient's follicle stimulating hormone level was 44.4 mIU/mL at age 38 and then decreased to 4.

Gonadotropin-Releasing Hormone (GnRH) Agonists Do Not Protect Ovarian Function in Patients Undergoing Stem Cell Transplants.

Introduction Medical indications for fertility preservation include any malignancy, chronic illness, or disease that would require gonadotoxic chemotherapy or radiation (conditioning regimens), which would impede a woman's ability to conceive in the future. Thus, any patient who plans to undergo a gonadotoxic regimen is advised to cryopreserve oocytes or embryos, which can be used in the future at the patient's convenience. Attempts have been made to suppress ovarian function with gonadotropin-releasing hormone agonists (GnRH-a) to induce ovarian quiescence and, thereby, theoretically limit the gonadotoxic impact on the follicular pool.

An update on endometriosis biomarkers.

Endometriosis is a debilitating gynecologic disorder characterized by chronic pelvic pain, pelvic adhesions and infertility. The gold standard diagnostic modality is histologically by tissue biopsy, although it can be diagnosed empirically if symptoms improve with medical treatment. A delayed diagnosis of endometriosis often leads to a significant impairment in quality of life and work productivity; hence, significant morbidity has been shown to bear a detrimental impact on society and the economy.

Preimplantation genetic testing for sickle cell disease: a cost-effectiveness analysis.

Objective: To evaluate the cost-effectiveness of in vitro fertilization with preimplantation genetic testing for monogenic disease (IVF + PGT-M) in the conception of a nonsickle cell disease (non-SCD) individual compared with standard of care treatment for a naturally conceived, sickle cell disease (SCD)-affected individual.

Design: A Markov simulation model was constructed to evaluate a one-time IVF + PGT-M treatment compared with the lifetime standard of care costs of treatment for an individual potentially born with SCD. Using an annual discount rate of 3% for cost and outcome measures, quality-adjusted life years were constructed from utility weights and life expectancy values and then used as the effectiveness measurement.

A critical appraisal of studies on endometrial thickness and embryo transfer outcome.

A receptive endometrium is required for successful embryo implantation. Endometrial thickness, as measured by ultrasonography, is the most commonly used marker of endometrial receptivity in assisted reproductive technology cycles. Several factors simultaneously affect both endometrial thickness and probability of live birth, including age, oestradiol concentration and oocyte number, among others.

Pregnancy outcomes in in vitro fertilization in 17-alpha-hydroxylase deficiency.

Since the first case of 17-alpha-hydroxylase-deficiency (17-OHD) was described in 1966, a number of cases have been reported with a clinical picture of hypertension, hypokalemia, and hypogonadism. Infertility is a major concern for some of these individuals. This mini-review aims to detail the components of this disorder that affect fertility and focus on the recent acceleration in the success of achieving live births, as well as highlight the unsuccessful attempts.

Reproductive genetics laboratory may impact euploid blastocyst and live birth rates: a comparison of 4 national laboratories' PGT-A results from vitrified donor oocytes.

Objective: To evaluate potential variation in the euploid blastocyst rate and live birth rate (LBR) per single frozen euploid blastocyst transfer, among 4 unique United States reproductive genetics laboratories. Analyses were limited to blastocysts derived from vitrified donor oocytes, to minimize variation in oocyte quality.

Design: Retrospective cohort study from 2016 to 2020.

Use of gonadotropin-releasing hormone (GnRH) agonist trigger in fertility preservation for patients with inherited genetic disorders.

In patients with varying hematologic disorders (thalassemia, sickle cell anemia, aplastic anemia, etc.), inherited bone marrow failure syndromes, and immune deficiencies due to a single gene disorder, the advent of stem cell transplantation (SCT) as a treatment option has allowed for significant disease improvement, and possibly cure. This specific treatment option often requires exposure to chemotherapeutic agents and sometimes whole body radiation; therefore, primary ovarian insufficiency is often sequelae of the therapy.

The Estrogen Receptor α Cistrome in Human Endometrium and Epithelial Organoids.

Endometrial health is affected by molecular processes that underlie estrogen responses. We assessed estrogen regulation of endometrial function by integrating the estrogen receptor α (ESR1) cistromes and transcriptomes of endometrial biopsies taken from the proliferative and mid-secretory phases of the menstrual cycle together with hormonally stimulated endometrial epithelial organoids. The cycle stage-specific ESR1 binding sites were determined by chromatin immunoprecipitation and next-generation sequencing and then integrated with changes in gene expression from RNA sequencing data to infer candidate ESR1 targets in normal endometrium.

P450 Side-Chain Cleavage Enzyme (P450-SCC) Is an Ovarian Autoantigen in a Mouse Model for Autoimmune Oophoritis.

Steroid-producing cells contain key cytochrome P450 enzymes, such as side-chain cleavage (P450-SCC) and 17α-hydroxylase (17α-OH). They are required for steroid hormone synthesis and considered antigens associated with Addison's disease and autoimmune primary ovarian insufficiency (POI). We studied an animal model for human autoimmune POI in mice with autoimmune oophoritis induced by neonatal thymectomy performed at day 3 (TX3).

Preconception hemoglobin A1c concentration in healthy women is not associated with fecundability or pregnancy loss.

Objective: To examine the relationship of preconception hemoglobin A1c, a marker of cumulative exposure to glucose over the preceding 2-3 months, with time to pregnancy, pregnancy loss, and live birth among fecund women without diagnosed diabetes or other medical diseases.

Design: A secondary analysis of a prospective cohort of women participating in the Effects of Aspirin in Gestation and Reproduction (EAGeR) trial.

Setting: Four US academic medical centers.

The efficacy of add-ons: selected IVF "add-on" procedures and future directions.

Since the advent of ART, technology has continuously evolved to improve embryology and pregnancy outcomes. However, not all technologies that are integrated into practice have convincing evidence of clinical effectiveness, and they often increase the financial burden of fertility care. We discuss here a selection of commonly utilized IVF "add-ons" and discuss the existing evidence for their utility.

Conventional Laparoscopy Is the Better Option for Tubal Sterilization Reversal: A Closer Look at Tubal Reanastomosis.

Permanent sterilization is one of the most common methods of birth control in the United States and around the world. A small subset of women will regret their decision and desire future fertility. For these women, the options include fertilization (IVF) or surgical reversal.

Karyotypic abnormalities and Y chromosome microdeletions: How do these impact in vitro fertilization outcomes, and how common are they in the modern in vitro fertilization practice?

Objective: To examine the outcomes of in vitro fertilization with intracytoplasmic sperm injection (IVF-ICSI) in couples in whom the male partner has a karyotypic abnormality or Y chromosome microdeletion (YCM).

Design: Retrospective cohort.

Setting: Single infertility center.

Fertility preservation before hematopoetic stem cell transplantation: a case series of women with GATA binding protein 2 deficiency, dedicator of cytokinesis 8 deficiency, and sickle cell disease.

Objective: To describe fertility characteristics, outcomes of oocyte cryopreservation cycles, and safety of ovarian stimulation in patients with GATA binding protein 2 (GATA2) deficiency, dedicator of cytokinesis 8 (DOCK8) deficiency, and sickle cell disease (SCD) preparing for hematopoetic stem cell transplantation (HSCT).

Design: Retrospective case series.

Setting: The National Institutes of Health.