We present a rare case of an unmarried woman in her mid-twenties with primary amenorrhoea who was found to have the unusual coexistence of mosaic Turner syndrome (45, XO/46, XX) and Mayer-Rokitansky-Küster-Hauser syndrome with MURCS association (Müllerian agenesis, Renal anomalies, Cervicothoracic Somite dysplasia). The patient exhibited normal secondary sexual characteristics and was phenotypically female. The patient underwent successful laparoscopic Davydov vaginoplasty in anticipation of marriage. This case highlights the diagnostic complexity and management challenges associated with dual congenital anomalies that affect both gonadal and Müllerian development.

Primary amenorrhea is defined as the absence of menarche by age 13 without secondary sexual characteristics or by age 15 with them. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea after ovarian failure. This case highlights a 15-year-old female with MRKH syndrome type I presenting with chronic headaches. A 15-year-old female presented with primary amenorrhea and chronic frontal headaches. She reported non-foul-smelling white per vaginal discharge but denied visual disturbances, limb weakness, or systemic symptoms. Examination revealed normal secondary sexual characteristics, a blind vaginal pouch (0.5 cm), and a low body mass index of 17. Pelvic ultrasonography and MRI confirmed uterine agenesis with normal ovaries and no renal anomalies, consistent with MRKH syndrome. Brain MRI and hormonal profiles were normal, suggesting her headaches were likely nutritional and dehydration related, which improved with dietary optimization. A multidisciplinary team performed McIndoe vaginoplasty using a split-thickness skin graft, successfully creating a 9-cm neovagina. On follow-up, the patient demonstrated good neovaginal patency, maintained regular self-dilatation, and reported improved psychological well-being. MRKH syndrome is a congenital disorder characterized by the absence or underdevelopment of the uterus and upper vagina despite normal external genitalia and a 46,XX karyotype. It affects approximately 1 in 5000 females. Diagnosis is confirmed through imaging, with MRI being the most reliable modality. Although headaches are not commonly associated with MRKH, in this patient, they were likely due to undernutrition, dehydration, and psychological stress. Management of MRKH includes both nonsurgical (vaginal dilation) and surgical approaches. The McIndoe procedure, involving a skin graft to create a neovagina, has shown high success rates in improving sexual function and psychological well-being. Postoperative outcomes highlight the importance of a multidisciplinary approach. This case highlights a rare presentation of MRKH syndrome with primary amenorrhea and headache in a young adolescent. Although headaches may mislead diagnosis, imaging is vital for confirmation and exclusion of other causes. The patient improved following McIndoe vaginoplasty, emphasizing timely diagnosis, multidisciplinary care, and psychological support for optimal outcomes.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital anomaly of the Müllerian ducts and represents the second most common cause of primary amenorrhea, accounting for 10%-15% of cases. Despite its significance, limited data exist regarding its clinical profile and associated anomalies in the Indian population. This study aims to determine the prevalence of MRKH syndrome among women presenting with primary amenorrhea at a tertiary care center in South India and to describe their clinical profiles and associated anomalies using the Vagina Cervix Uterus Adnexa-associated Malformation (VCUAM) classification system. A retrospective study was conducted over 15 years (January 2008 to December 2022) including women diagnosed with MRKH syndrome based on inclusion criteria: primary amenorrhea, normal secondary sexual characteristics, 46-XX karyotype, and normal serum follicle-stimulating hormone levels. Data were extracted from medical records and analyzed using SPSS v25.0. Out of 340 women with primary amenorrhea, 181 (60%) were diagnosed with MRKH syndrome. The mean age at presentation was 21 years. The predominant complaint was non-attainment of menarche (66.8%), with 16.5% reporting cyclical abdominal pain. Type 1 MRKH was most common (78.9%), followed by Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia (MURCS) association (16.5%). Renal anomalies (15.5%) were the most frequent extragenital malformations. All women had vaginal and cervical agenesis (V5bC2b). Uterine anomalies included bilateral aplasia (89.1%), unilateral aplasia (0.6%), and hypoplasia (10.5%). MRKH syndrome is a significant cause of primary amenorrhea, with notable extragenital anomalies, especially renal. Systematic evaluation using the VCUAM classification enables comprehensive assessment, aiding in individualized and multidisciplinary care strategies.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome encompasses a range of Müllerian duct anomalies characterized by congenital absence of the uterus and the upper two-thirds of the vagina in young women who otherwise exhibit normal endocrine function and a 46,XX karyotype. MRKH syndrome can occur in an isolated form (type I) or in association with other congenital anomalies (type II or MURCS association), which may include renal, vertebral, auditory, and cardiac defects. It represents one of the most frequent causes of primary amenorrhea, affecting approximately 1 in every 4000-5000 women. MRKH syndrome often remains undiagnosed until a patient presents with primary amenorrhea, despite normal development of secondary sexual characteristics. Both genetic and non-genetic factors have been proposed as contributing to abnormal embryonic development, although the exact etiopathogenesis remains unclear. Imaging plays a key role in the evaluation of genital tract anomalies, allowing non-invasive and comprehensive assessment. Alongside physical examination and pelvic ultrasound, pelvic MRI is essential for identifying the presence of rudimentary uterine tissue. MRKH syndrome can have profound and lasting psychological impacts, making it essential for patients and their families to receive counseling both before and throughout treatment. A range of therapeutic options-both surgical and non-surgical-have been proposed for managing MRKH syndrome. Vaginal dilation remains the first-line treatment, as it offers high success rates with minimal risk of complications. Vaginoplasty is considered a second-line option for patients who do not respond to dilation therapy. Additionally, uterine transplantation and gestational surrogacy provide opportunities for women with MRKH syndrome to achieve biological motherhood. This review provides an updated overview of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, encompassing its etiological, clinical, diagnostic, psychological, therapeutic, and reproductive aspects. We also present a case involving a 19-year-old woman with MRKH syndrome who presented with primary amenorrhea, highlighting the crucial role and advantages of MRI in diagnosis, differential assessment, and treatment planning.

To describe the step-by-step simultaneous vaginal and laparoscopic approach for the creation and reconstruction of a neovagina using a skin graft in a woman affected by Mayer-Rokitansky-Küster-Hauser syndrome [1]. To date, no data are available in the literature comparing our technique with other validated approaches such as McIndoe and Davydov, as our process is a newly developed one. Tertiary-referral center. An eighteen-year-old woman affected by type 1 Mayer-Rokitansky-Küster-Hauser syndrome previously treated with vaginal dilators without success attracted our attention because of her desire to treat her vaginal agenesis. The patient report primary amenorrhea and appeared with normal secondary sexual characteristics. Blind vaginal pouch was confirmed via imaging [2]. After having an accurate counseling with the patient, using drawings on the thigh, informing her about the postoperative course, and showing aesthetic outcomes, an innovative surgery, resulting from a combination of vaginal and laparoscopic approaches, was proposed. The surgical procedure consisted of 2 phases. The vaginal step involved the creation of the lower part of the neovagina using the Fortunoff technique, whereas the laparoscopic step enabled the creation of the upper part under direct visual control. The neovagina was reconstructed using a skin graft harvested from the patient's thigh. The combination of techniques enabled the development of a functional vaginal canal with excellent anatomical and clinical outcomes. At three-month follow-up, the neovagina appeared fully epithelialized, with a total length of 8 cm and satisfactory anatomical and functional results [3-5]. In conclusion, this is the first reported case of a technique combining a vaginal approach for creating the lower canal of the neovagina with a laparoscopic approach for the upper part. We are committed to increasing our case series so that our surgical approach may be considered a viable option to offer surgeons in the future. VIDEO ABSTRACT.