Distal vaginal agenesis (DVA) is a rare form of female genital tract malformation that presents as cryptomenorrhea. It results from the failure of the urogenital sinus to form the caudal portion of the vagina. Through a thorough history, physical examination and appropriate imaging studies, an accurate diagnosis is integral in selecting the correct intervention for the patient. This is a case of distal vaginal agenesis in a 10-year-old nulligravid, who presented with fecal retention from an abdominopelvic mass. The patient had no bowel movement for four days, and abdominal enlargement. On inspection, there was a 12.0cm x 10.0cm palpable abdominal mass. Inspection of the external genitalia, the introitus appeared concave, with no appreciable introital opening. On digital rectal examination, an anterior bulge was palpated 0.5 cm from the anal verge. A pull-through vaginoplasty was performed with an unremarkable post-operative course. The patient was discharged with a patent vagina and resolution of her gastrointestinal symptoms. On follow-up, the patient had monthly menstruation after surgery with no recurrence of her gastrointestinal symptoms.

Human ; Female ; Child: 6-12 Yrs Old ; Congenital Abnormalities ; Digital Rectal Examination ; Defecation

A unicornuate uterus with a non-communicating rudimentary horn is a rare Müllerian duct anomaly that is frequently underdiagnosed because of its variable clinical presentation and the limitations of conventional imaging modalities. Although not considered a direct cause of infertility, it may coexist with other reproductive pathologies and contribute to adverse reproductive outcomes. Presented here is a case series of three infertile women aged 30–36 years who were diagnosed with a unicornuate uterus and non-communicating rudimentary horn during fertility evaluation. Patient A presented with primary infertility, cyclic pelvic pain, endometriosis, and bilateral tubal disease; Patient B had a seven-year history of primary infertility and was initially suspected to have unilateral tubal obstruction; and Patient C was referred with a presumed diagnosis of uterine didelphys and was subsequently found to have a unicornuate uterus with a non-communicating rudimentary horn and ipsilateral renal agenesis. In all three cases, preoperative imaging failed to establish the definitive diagnosis, which was confirmed intraoperatively through laparoscopy, chromotubation, and hysteroscopy. Patients A and B underwent laparoscopic excision of the rudimentary horn with ipsilateral salpingectomy, while Patient C underwent only ipsilateral salpingectomy. Hysteroscopic transillumination was utilized in one case to facilitate safe laparoscopic dissection and delineation of the hemiuterine anatomy. All patients had uneventful postoperative recovery and were subsequently counseled regarding fertility options. This case series highlights the diagnostic challenges posed by unicornuate uterus with a non-communicating rudimentary horn, emphasizes the importance of a high index of suspicion during infertility work-up, and demonstrates the value of minimally invasive surgical management and hysteroscopic transillumination in selected cases. Early recognition and individualized treatment may help reduce reproductive complications and improve fertility counseling and management.

Human ; Female ; Adult: 25-44 Yrs Old ; Infertility, Female ; Laparoscopy ; Salpingectomy ; Hysteroscopy ; Pathology ; Endometriosis ; Fallopian Tube Diseases ; Transillumination ; Uterine Didelphys

BACKGROUND

Managing low ovarian response remains challenging despite advancements in assisted reproductive technology (ART). Although several approaches have been proposed, there is no strong evidence that a particular stimulation protocol is superior over the other in terms of improving reproductive outcomes in this group of women. The double stimulation protocol (DuoStim) suggests ovarian stimulation during both the follicular phase and the luteal phase of the same ovarian cycle; hence, facilitating two oocyte retrievals in the shortest amount of time.

OBJECTIVE

This study assessed the effect of the double stimulation protocol (DuoStim) on poor ovarian responders in terms of cumulative live birth rates and clinical pregnancy rates, and compared these outcomes to conventional stimulation protocols.

METHODS

This is a systematic review and meta-analysis of randomized controlled trials (RCT), cohort and cross-sectional studies in accordance with the Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) statement. Data from eligible journals were tabulated and analyzed using Cochran’s Q and I² tests.

RESULTS

Eight studies involving poor ovarian responders were included in the meta-analysis. Pooled analysis demonstrated no significant difference between DuoStim and conventional ovarian stimulation protocols in clinical pregnancy rate (OR 0.99, 95% CI 0.75–1.30) and cumulative live birth rate (OR 0.87, 95% CI 0.59–1.28). Fertilization rates were likewise comparable between groups. Nevertheless, several included studies reported higher oocyte yield and greater numbers of mature oocytes and blastocysts with DuoStim

CONCLUSION

Current evidence does not demonstrate significant superiority of DuoStim over conventional ovarian stimulation protocols in terms of clinical pregnancy rates, cumulative live birth rates, or fertilization rates among poor ovarian responders. However, DuoStim appears to be an effective strategy for increasing oocyte yield within a shorter treatment timeframe. Its use may be particularly relevant in selected patients with diminished ovarian reserve, advanced maternal age, or urgent fertility preservation needs. Further high-quality prospective trials are warranted to clarify its impact on reproductive outcomes.

Human ; Ovulation Induction ; Ovarian Stimulation ; Ovarian Reserve ; Fertilization In Vitro

BACKGROUND

The benefits of preimplantation genetic testing for aneuploidy (PGT-A) in the advanced maternal age group are unclear.

OBJECTIVE

This study aims to determine whether PGT-A improves pregnancy outcomes.

METHODS

This is a retrospective cohort study of PGT-A outcomes using next generation sequencing for advanced maternal age women undergoing IVF at CARMI from May 2017 to May 2021. Women were grouped by age: those 35-39 and those 40 and above. Pregnancy rate (PR), live birth rate (LBR), and miscarriage rate (MR) were computed per transfer and per cycle and compared with women who underwent single day-5 frozen transfer of a morphologically chosen embryo.

RESULTS

Overall euploid blastocyst rate was 38.5%: 16.9% for 40 and above and 47.6% for 35- 39 group. There were no transfers in 41.4% due to absence of a euploid embryo. PR and LBR per embryo transfer were higher in the PGT-A versus the non-PGT-A group (61.9% vs 24.1% p = < 0.001 and 42.9% vs 19% p = < 0.001). By age, the findings were similar: higher PR and LBR per-embryo transfer in PGT-A versus non-PGT-A in the 35-39 group (58.4% and 29%, p = 0.006 and 42.9% vs 22.6%, p < 0.001 respectively) and 40 and above (71.4% vs 18.5%, p < 0.001 and 53.6% vs 14.8%, p < 0.001 respectively). MR was increased in the PGT-A versus non-PGT-A group, but this may be due to the small number of events in the population.

CONCLUSION

The study suggests an increase in PR and LBR per embryo transfer in advanced maternal age women undergoing PGT-A. A larger sample size is needed to validate the results.

Human ; Female ; Fertilization In Vitro ; Aneuploidy ; High-throughput Nucleotide Sequencing ; Blastocyst ; Embryo Transfer ; Abortion, Spontaneous

Parasitic dermoid cysts may form from autoamputation of the ovarian mass secondary to torsion or rupture. It may then reimplant in surrounding structures and undergo subsequent neovascularization and further growth. The true incidence of these cases is unknown, however, a study reported a 0.04% incidence among 1,007 cases of dermoid cysts. This report describes the case of a 30-year-old multigravida who presented with an ultrasound finding of an ovarian dermoid cyst, which, upon laparoscopic surgery, turned out to be a parasitic dermoid cyst adherent to the bladder, with grossly normal bilateral ovaries. Theories on the development of parasitic dermoid cyst are also presented.
Human ; Female ; Adult: 25-44 yrs old ; dermoid cyst ; laparoscopy

In Mayer-Rokitansky-K0ster-Hauser (MRKH) syndrome, the development of the uterus and some parts of the vagina is either completely absent or reduced. It is a rare congenital anomaly, and affects one in 4,000-5,000 female births and commonly presents as primary amenorrhea. Approximately 6% - 10% of these patients with MRKH syndrome report persistent pelvic pain, which may be attributed to the presence of myomas, endometriosis, adenomyosis or hematometra caused by a functioning endometrial tissue in a uterine remnant. This paper presents the case of a 37 year old nulligravid who experienced severe cyclic hypogastric pain, and was subsequently diagnosed with MRKH syndrome with adenomyosis. Clinical evaluation and definitive management of the index case are discussed.
Human ; Female ; Adult: 25-44 yrs old ; mullerian failure ; mullerian aplasia ; adenomyosis ; pelvin pain

Congenital malformations of the uterus are rare. Pregnancies in these uterine abnormalities are usually associated with poor reproductive outcomes such as recurrent pregnancy losses, preterm birth and intrauterine growth restriction. Presented here is the case of a 21-year old G2P1(1001), who was diagnosed intraoperatively with a septate bicornuate uterus during her second Cesarean delivery. She had to undergo abdominal delivery for both her pregnancies due to malpresentation, and delivered live healthy babies with no gross structural defects. Pathophysiology and classification of congenital uterine malformations are discussed in the case, as well as the diagnostics and management for such conditions.
Human ; Female ; Young Adult: 19-24 yrs old ; Bicornuate uterus ; Septate Uterus ; Uterine anomalies

Human:Endocrinology ; Gynecologic surgical procedures ; Education, medical

practice guideline ; literature ; diagnosis ; endometriosis

This report details the case of a 24-year-old Filipino individual born with ambiguous genitalia, assigned female at birth, and raised as such. Around the age of 13, the patient began to develop secondary male characteristics. Medical assessment was postponed until the onset of abdominal pain led the patient to seek consultation. Cytogenetic testing revealed a sex chromosome disorder of sexual development with a mosaic karyotype of 45,X/45,X,del(X)(q13). Imaging, surgical exploration, and histopathologic evaluation confirmed that a pelvoabdominal mass originated from the left ovary and was a mixed germ cell tumor containing yolk sac tumor and mature teratoma components. At presentation, the patient also reported symptoms consistent with gender dysphoria. This case highlights the wide phenotypic variability of mosaic Turner syndrome and reinforces the importance of accurate neonatal sex assignment in individuals with DSD. It further emphasizes the need for healthcare providers to remain vigilant for such presentations to enable prompt, tailored, and comprehensive management.

Human ; Female ; Young Adult: 19-24 Yrs Old ; Disorders Of Sex Development ; Ambiguous Genitalia