[Mayer-Rokitansky-Küster-Hauser syndrome].

Area of Science:

• Reproductive Medicine and Genetics
• Congenital Anomalies

Background:

• Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly defined by uterovaginal agenesis in 46,XX females.
• Affected individuals typically possess normal secondary sexual characteristics and karyotype.
• The syndrome's prevalence is approximately 1 in 5,000 live female births.

Purpose of the Study:

• To provide a comprehensive overview of Mayer-Rokitansky-Küster-Hauser syndrome.
• To synthesize current knowledge regarding its history, genetics, diagnostics, and treatment.
• To address psychosexual aspects and fertility options for individuals with MRKH syndrome.

Main Methods:

• This study is a review article.
• It synthesizes existing literature and research findings on MRKH syndrome.
• Information was gathered kaleidoscopically, covering multiple facets of the condition.

Main Results:

• MRKH syndrome presents with specific diagnostic criteria, including uterovaginal agenesis.
• Recent studies confirm a prevalence of 1 in 5,000 live female births.
• The review consolidates information on management and patient support.

Conclusions:

• A thorough understanding of MRKH syndrome's multifaceted nature is crucial for effective patient care.
• This review serves as a resource for clinicians and researchers, summarizing key aspects from history to future fertility considerations.
• Comprehensive management should address physical, psychosexual, and reproductive health.