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Updated: Jul 15, 2026
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Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome
Published on: May 10, 2022
The Mayer-Rokitansky-Küstner-Hauser syndrome
Gianna Pace1, Francesco Navarra, Giuseppe Galatioto Paradiso
1University of L'Aquila, Urology Department, Teramo, Italy. pacegianna@beactive.it
Summary
This case study details Mayer-Rokintansky-Küstner-Hauser syndrome (MRKH), focusing on a patient with severe renal malformations including a cross-ectopic kidney causing pain. The study highlights diagnostic findings and management considerations for this rare condition.
Area of Science:
- Reproductive Medicine
- Urology
- Medical Genetics
Background:
- Mayer-Rokintansky-Küstner-Hauser syndrome (MRKH) is a rare congenital condition characterized by the absence of the uterus and upper vagina.
- MRKH is often associated with renal anomalies, but severe presentations with pelvic pain due to ectopic kidneys are less common.
Observation:
- A patient presented with primary amenorrhea and left pelvic pain attributed to hydronephrosis of a right cross-ectopic kidney.
- Diagnostic imaging confirmed uterine and upper vaginal agenesis, left kidney agenesis, and the presence of a right cross-ectopic kidney in the left iliac fossa.
Findings:
- The case highlights a severe manifestation of MRKH where renal malformations, specifically a cross-ectopic kidney, were the primary source of symptoms.
- Diagnostic workup included ultrasound and CT scans to identify the cause of pelvic pain and associated anomalies.
Implications:
- Management of MRKH requires addressing both the anatomical defects (e.g., surgical neovagina creation) and psychological impact on the patient.
- Assisted reproductive technologies offer possibilities for motherhood, and comprehensive screening for associated anomalies (renal, cervico-thoracic, hearing, digital) is crucial, especially in severe MURCS (Müllerian Renal Cervical Somite) forms.
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