Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a genetic condition causing the absence or underdevelopment of the uterus and upper part of the vagina, affecting approximately 1 in every 4,500 to 5,000 female newborns. This defect impacts fertility and reproductive health and can be divided into two types: type 1 (complete uterine loss with normal ovaries) and type 2 (skeletal and renal defects). Women with MRKH struggle to conceive or carry a pregnancy, impacting their experience of womanhood and motherhood. Here, we replicate a rare instance of an MRKH woman who successfully underwent neovaginal and neocervical construction and gave birth to a healthy baby.

This case report details a 14-year-old female with primary amenorrhea, vaginal and cervical agenesis, and successful pregnancy after neovagina and neocervical creation. The patient underwent a comprehensive evaluation, including abdominal ultrasonography, laboratory tests, and follow-up imaging. Multiple surgical interventions were performed to monitor changes in uterine and pelvic structures. Informed consent was obtained for publication.

Our case was a 14-year-old female patient presented with primary amenorrhea in 2018 and underwent abdominal ultrasonography in 2019. She had a uterus measuring 38 x 78 mm with an endometrial thickness of 4 mm without cervix and vagina, and her ovaries measured 20 x 36 mm and 24 x 36 mm, respectively. In 2019, she returned with persistent amenorrhea and abdominal pain, and her uterus measured 96x44 mm with 3 mm endometrial thickness, hematometra, left hydrosalpinx, and fluid collection in the pelvis and posterior cul-de-sac. In January 2020, she underwent combined vaginal and abdominal surgery for neovagina and neo-cervical creation due to primary amenorrhea and hematometra, a second surgery was performed in 2021 to address recurrent symptoms, and in April 2023, a laparoscopic removal of the vesicouterine catheter was performed, resulting in a 6-7 cm neovagina. The patient married at 16 and conceived 1 year after marriage, shortly after her final cervical dilation procedure. At 17 weeks’ gestation, she underwent cervical cerclage, and a cesarean section was performed at 36 weeks (end of 2024) because of severe oligohydramnios, resulting in the delivery of a healthy infant.

Advances in reproductive medicine have provided more options for women to become mothers, like Uterine transplantation (UTx) and surgical construction of a neovagina. However, women who were born with cervical Agenesis have very little chance of getting pregnant, and we couldn’t find similar cases in our search.

Our case's unique, spontaneous conception process demonstrates how advances in reproductive medicine, such as uterine transplantation or genital tract construction, are enhancing the quality of life for women with MRKH and allowing them to achieve their motherhood dreams. Also, it is suggested to consider hysterectomy as the last option for women with cervical Agenesis.