Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.

Area of Science:

• Reproductive Medicine
• Genetics
• Gynecology

Background:

• Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a congenital condition affecting uterus and upper vagina development in females.
• It is characterized by normal secondary sexual characteristics and a 46,XX karyotype, with a prevalence of approximately 1 in 5000 live female births.
• MRKH syndrome presents as Type I (isolated) or Type II (with extragenital anomalies like renal or cardiac issues), with elusive etiology but suspected genetic factors.

Purpose of the Study:

• To provide a comprehensive review of current research and clinical advancements in MRKH syndrome.
• To highlight recent progress in understanding the genetic basis and psychosexual impact of MRKH syndrome.
• To discuss emerging fertility treatments and future research directions for improved patient care.

Main Methods:

• Review of recent multidisciplinary research findings on MRKH syndrome.
• Analysis of diagnostic approaches, including investigations for primary amenorrhea.
• Evaluation of therapeutic strategies for vaginal agenesis and uterine factor infertility.

Main Results:

• Advances in genomic techniques have identified potential genetic abnormalities in some MRKH syndrome patients.
• Non-invasive vaginal dilations are recommended as first-line therapy for vaginal agenesis.
• Uterus transplantation (UTx) has emerged as a successful fertility treatment, enabling live births for women with MRKH syndrome.

Conclusions:

• Significant research progress has been made across various disciplines concerning MRKH syndrome.
• Uterus transplantation represents a groundbreaking fertility option, offering biological motherhood to affected individuals.
• Future research should focus on further elucidating genetic causes and refining clinical management for better patient outcomes.