BACKGROUND Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital abnormality of sexual development characterized by an aplastic or hypoplastic uterus, as well as the absence of the cervix and the upper third of the vagina. It may be limited to the reproductive tract (MRKH type 1), or in association with abnormalities of the extragenital tract, usually of renal and skeletal origin (MRKH type 2). The presence of a pattern of multiple anomalies has been described, specifically characterized by aplasia of the Müller ducts (MU), renal aplasia (R), and alterations of the cervicothoracic somite (CS), which has been called the MURCS association. METHODOLOGY A search was performed in the Medline database via PubMed using the following terms: “Mayer–Rokitansky–Küster–Hauser Syndrome”, “Mullerian anomalies”, “genetics of agenesis/hypoplasia of the uterus and vagina”, “uterine cervical aplasia and agenesis”, from 1979 to 2023, a total of 316 studies were found, 58 studies were selected that included women with a diagnosis of MRKH or MURCS association. CASE REPORT A 34-year-old woman attends a gynecologist evaluation presenting primary amenorrhea, with external genitalia with normal development, but has multiple spinal abnormalities. The image reports the absence of the uterus and the superior two-thirds of the vagina, renal aplasia, scoliosis, and cervical, thoracic, and lumbar spinal abnormalities. CONCLUSIONS Mullerian abnormalities are a set of abnormalities of sexual development in which the development of the uterus, fallopian tubes, and vagina are mainly affected. Within this group, there is MRKH syndrome. In these variants of GREB1L (estrogen growth regulation gene in breast cancer type 1 gene), variants have been reported in familiar cases of bilateral renal agenesis. Establishing the cause of these clinical entities is controversial, making it difficult to deny or affirm whether the atypical forms of the MRKH syndrome and the MURCS association belong to the same phenotypic spectrum originating from common or related causes or simply different entities.

Background Fragile X syndrome (FXS) is a condition of non-Mendelian nucleotide repeats, which is due to the loss of function of the FMR1 gene (Fragile X Mental Retardation 1); it is caused by the hypermethylation of the repetitions of CGG (cytosine-guanine-guanine triple), expanded adjacent to exon 1 of the FMR1 gene; this mutation affects more than 98% of people with SXF. Clinical Case 35-year-old patient. Consulted for primary infertility of 1 year of evolution, relevant biochemical studies were requested, among which he highlighted the result of Anti-Mullerian Hormone of 0.40 ng/mL. By age and diagnosis of low ovarian reserve, it is decided to perform FMR1 mutation analysis in search of the cause of the probable primary ovarian failure, resulting in a premutation with repetition of 49 CGG. It is decided to perform a cycle of controlled ovarian stimulation, with menotropins 300 IU every 24 hours + dydrogesterone 30mg orally to inhibit LH peak, as well as the use of transdermal testosterone 50 mg every 24 hours to improve the ovarian response, obtaining 2 MII oocytes, which are vitrified. It is decided to perform a 2nd cycle of ovarian stimulation with menotropins 300 Units + GnRH antagonist to be able to make embryo transfer. The use of 50mg of transdermal testosterone to improve the result, obtaining 4MII, a total of 6 MII oocytes for the two cycles, ICSI (intracytoplasmic sperm injection) is performed at the 6 oocytes of which 4 embryos were obtained in the blastocyst stage, transferring 1 embryo in fresh, and vitrifying 3, quantification of hCG beta-positive fraction is performed at 10 days post-transfer, obtaining a live newborn, male with a weight of 4,010 kg, Size: 58 cm without complications. Conclusions FMR1 premutation is associated with a risk of reduced ovarian function and premature ovarian failure with the early loss of fertility in 20% of carrier women due to the reduced number of follicles in the ovaries. Transdermal pretreatment of testosterone seems to increase pregnancy and the rates of live births in people considered deficient who undergo ovarian stimulation for IVF.

This study addresses the development of EndoClassify, an artificial intelligence (AI) model designed to assess endometrial characteristics and enhance embryo receptivity. Utilizing a dataset of 402 endometrial ultrasound images augmented to 14.989, EndoClassify, incorporating Attention U-Net for image segmentation and GoogLeNet Inception for image classification, demonstrated exceptional performance with an accuracy of 95%, loss of 10%, a sensitivity of 93%, and specificity of 93%. The significance of EndoClassify extends beyond its robust metrics. This AI model has transformative potential in clinical settings, offering specialists a reliable, rapid, and accurate tool for endometrial assessment in assisted reproduction technology (ART) cycles. Identifying ‘good endometrium’ with 71% accuracy, corresponding to a 74% pregnancy rate, underscores EndoClassify’s role in significantly improving patient outcomes. In conclusion, the seamless integration of ultrasonographic parameters and AI techniques enhances efficiency in clinical decision-making and signifies a crucial collaboration between advanced technology and clinical expertise. While acknowledging the retrospective design as a limitation, it is imperative to highlight potential biases introduced by this design. Additionally, including fresh and frozen embryo transfers without known ploidy status adds transparency to the study’s limitations. EndoClassify stands as a beacon of progress, poised to revolutionize personalized treatment strategies and bring tangible benefits to specialists and patients in the dynamic landscape of assisted reproductive technology.

Purpose This study aimed to investigate the efficacy of long-term gonadotropin-releasing hormone (GnRH) agonist therapy in preventing endometriosis progression and relieving symptoms, particularly on pregnancy outcomes during thawed embryo transfer in patients experiencing endometriosis and recurrent implantation failure or recurrent pregnancy loss. Methods In individuals with clinical endometriosis and a history of recurrent implantation failure or recurrent pregnancy loss, we conducted a comparative analysis of clinical outcomes between those undergoing long-term GnRH agonist treatment for symptom relief, such as menstrual pain, followed by embryo transfer using Hormone Replacement Therapy (HRT) cycle, and those undergoing embryo transfer using an HRT cycle without GnRH agonist treatment. The study examined various clinical outcomes between the two groups. Results The primary outcomes included live birth rate (LBR), miscarriage rate, biochemical pregnancy rate, and perinatal complications. The GnRH agonist group showed significantly higher LBR than the control group (37.50% vs. 13.04%; p=0.02). Multivariable logistic regression analysis, adjusted for age and gravidity, showed significantly higher LBR in the GnRH agonist group compared to the control group (odds ratio: 15.3; 95% confidence interval: 2.30, 102.00; p=0.005). Conclusions The findings of this study suggested that employing a GnRH agonist in the embryo transfer protocol is effective for patients with endometriosis experiencing recurrent implantation failure or recurrent pregnancy loss.

This article describes the radical changes in business models driving infertility care since the inception of IVF, which created the impetus for establishment of a separate sub-specialty of Reproductive Endocrinology and Infertility (REI). We here describe how this small new sub-specialty area of gynecology over 45 years grew into a highly influential subspecialty and, ultimately, into a true “industry,” supported by ever-larger numbers of provider clinics and, in parallel, an equally quickly growing full-service support industry. With the finance-world for several good reasons discovering fertility as a growth industry, the world has especially over the last decade witnessed an acceleration in the pace of change, the largest likely being that only a minority of individual IVF clinic sites in the U.S. are still physician-owned. Throughout the country, but especially in larger cities, it appears that Wall Street has taken over, with large national chains of IVF clinics, mostly owned by private equity, buying up physician-owned clinics at record pace to compete among themselves for market share. How these developments have already greatly affected the provision of fertility services, and where they will lead, is the topic of this article, with, of course, particular attention to the New York Tristate area.

Poor ovarian reserve (POR) is considered a frequent cause of infertility and is still considered one of the significant challenges in reproductive medicine. Numerous studies have suggested that androgens (dehydroepiandrosterone and testosterone) may play a critical role in follicular development by increasing the number of follicles and, consequently, the number of oocytes, ultimately leading to an increased pregnancy rate. Testosterone is a sex steroid hormone that originates from cholesterol and is considered an obligatory precursor of estradiol biosynthesis. It contributes to greater follicular recruitment, leading to the consideration that exogenous administration could increase the number of recovered oocytes. Methodology A historical, quantitative, observational, longitudinal, retrolective cohort study was carried out in the clinical area of assisted reproduction; 2 groups were formed where all women over 35 with primary or secondary infertility who met the criteria were included. Classification criteria of the POSEIDON IV group (age > 35 years with CFA < 5 follicles and/or AMH < 1.2 ng/mL), during the period from October 2021 to September 2022, the first group of patients had received supplementation with transdermal Testosterone 50mg daily one month before ovarian stimulation, the second group did not receive any treatment before ovarian stimulation. Women with a history of diagnosis of endometriosis, pelvic surgery or oophorectomy were excluded. This study has the approval of the ethics committee of the HISPAREP clinic. Each patient was given an informed consent which they signed before the study. We declare that we have no conflict of interest. The data from the records of all the patients who met the inclusion criteria were collected, including the antral follicle count on the first three days of the menstrual cycle by transvaginal ultrasound one month before ovarian stimulation and after one month of supplementation and without supplementation when starting controlled ovarian stimulation. The number of metaphase II oocytes obtained in each group was also analyzed. Results A total of 20 women were included; 10 underwent controlled ovarian stimulation with prior administration of transdermal testosterone at a dose of 50 mg every 24 hours for one month. The other 10 patients did not receive any supplementation or treatment before ovarian stimulation for highly complex assisted reproduction treatment due to various causes of infertility. The average age of the women was 40.2 ± 2.5 years in the study group and 43.3 ± 2 in the control group; normal weight in 80% of the group with testosterone and 90% without testosterone. The baseline conditions of the patients revealed an average anti-Müllerian hormone (AMH) level of 0.65 ± 0.28 ng/dL in the testosterone group and 0.84 ± 0.49 ng/dL in the non-testosterone group. The infertility factor was ovarian endocrine dysfunction, present in 60% of the testosterone group and 40% of the non-testosterone group; this factor was the predominant cause in both groups. The most common protocol stimulation was with (300/150 U) FSH/LH recombinant (Pergoveris, Merck) and GnRH antagonist (Cetrotide, Merck). The antral follicular count observed by ultrasound in each group after treatment with testosterone was 6.4 ± 2.4, and without testosterone was 6 ± 3.47; p<0.778. Without observing significant differences. The number of metaphase II oocytes obtained (mean ± standard deviation) after testosterone administration was 4.5 ± 2.37 and 1.5 ± 1.62 in participants who did not receive testosterone; p=0.04886, that is p<0.05, so the results were statistically significant in favor of testosterone administration. Conclusions Transdermal testosterone supplementation can be used as an adjuvant in controlled ovarian stimulation treatments in women of the POSEIDON IV group to improve the reproductive prognosis of this group of women. The 50mg dose of transdermal testosterone every 24 hours 1 month prior to the ovarian stimulation in highly complex treatments increases the number of metaphase II oocytes recovered statistically.

Objective To study if there are any effects of follicular output rate (FORT) and follicle to oocyte index (FOI) on embryos morphokinetics. Study design Kinetic data of 8,376 embryos, cultured in a time-lapse imaging incubator, derived from 2,470 patients undergoing ICSI cycles were analysed. Embryos were split into groups according to FOI value: Low FOI (n=247 cycles and 894 embryos) and High FOI (n=2,223 cycles and 7,482 embryos) and according to the FORT value: Low FORT (n= 753 cycle and 2,556 embryos), Medium FORT (n=874 cycles and 2,970 embryos), and High FORT (n=843 cycles and 2,850 embryos). Morphokinetic data were compared among the groups. Results Embryos derived from cycles with a low FOI presented slower development, a significantly lower KID score D5, blastocyst formation, and implantation rates when compared with those from cycles with high FOI. For the FORT, an increased time to complete morphokinetic events, significantly lower rates of blastocyst formation and implantation was observed among embryos derived from cycles with low FORT, followed by those with medium FORT, while embryos derived from cycles with high FORT presented a better development competence. However, no significant differences were noted in clinical pregnancy, miscarriage, or livebirth rates when the low, medium, and high FORT groups were compared. Conclusion FORT and FOI correlate with faster embryo development and may be a valuable approach to predict embryo developmental potential.

The purpose of this study is to examine the impact of the time elapsed between repeated oocyte retrievals, on the number of oocytes retrieved, according to the ovarian response of the patient. This retrospective cohort study, found no correlation between the time interval between consecutive oocyte retrievals of 30 up to 180 days and the number of oocytes or mature (MII) oocytes retrieved, neither in patients with low response with up to 4 oocytes retrieved nor those with 5 oocytes or more.

Background Previously published meta-analyses revealed that IVF combined with intracytoplasmic sperm injection (ICSI) had an increased risk of birth defects in children. ICSI is more invasive, expensive, and time-consuming than IVF, but both result in comparable live birth rates. Currently, despite traditional IVF being used less frequently nationally and internationally than combined IVF/ICSI, it is important to understand the relationship between traditional IVF and birth defects due to a paucity of literature. Objective This systematic review and meta-analysis focused on whether traditional IVF techniques increase the risk for “all” birth defects and “major” birth defects in singletons compared to naturally conceived children. Search Strategy PubMed and EMBASE databases adhered to PRISMA guidelines. Selection Criteria Study selection consisted of original publications in English reporting birth defects for IVF singletons vs. naturally conceived children. Data Collection and Analysis Nine selected items from STROBE criteria were employed to rate study quality. Random effect models were used to calculate pooled odds ratios. Results From 916 publications, fifteen studies met eligibility criteria. Eight studies were rated as high quality, while the remaining 7 were rated as medium. A higher rate of “all” birth defects (pooled OR= 1.44 (95% CI:1.15-1.80) as well as a higher risk for “major” birth defects (pooled OR= 1.64; 95% CI: 1.24-2.18) were observed among traditional IVF-conceived singletons compared to naturally conceived children. Conclusions This is the first systematic review and meta-analysis to date to provide the highest available evidence that IVF is associated with “all” and “major” birth defects among IVF singletons compared to naturally conceived infants. Future large prospective studies should employ standardized reporting and uniform protocols for identifying birth defects with consistent diagnostic criteria for both minor and major birth defects, and comparable durations of follow-up in order to obtain an accurate estimate of birth defects after IVF.

Evaluation of embryos’ genetic status is an increasingly widespread practice in assisted reproduction clinics. The existence of limitations with PGT-A, such as the invasive nature of the biopsy procedure and the need for the technical ability of embryologists, added with the knowledge that a determinate number of cells in trophectoderm might not be representative of the entire embryo genetics, is leading to increase the use of non-invasive PGT-A (niPGT-A) using spent cultured medium (SMCs) by embryos analyzed. This retrospective cohort study from May 2022 to August 2023 analyzed first experiences with niPGT-A, setting characteristics of patients—first, results obtained comparing pregnancy outcomes with frozen embryo transfer (FET) without niPGT-A. A total of 56 SCMs were collected. The average age of women in the study was 37.4±4.2 in the niPGT-A group and 36.0±5.9 in the FET group (p= 0.2953). The main reasons why couples decided to undergo niPGT-A were women’s age (46.7%), male factor (20.0%), and RIF (16.7%). No significant differences were seen between niPGT-A (n=14) and elective FET (n=18) groups in terms of biochemical pregnancy rate (35.7% vs 38.8%; p=0.4298) and clinical pregnancy rate (35.7% vs 33.3% p=0.4462) (CI 95%). Based on the results obtained, niPGT-A is an excellent alternative to assess the chromosomal status of cultured embryos. Comparing groups, no significant differences were found in biochemical and clinical pregnancy rates. A small number of samples represent a limitation; large-scale randomized studies will be necessary.