Overview
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital absence of the uterus and upper vagina with normal female secondary sexual characteristics, often presenting with primary amenorrhea post-puberty. It can be associated with renal, skeletal, and other Müllerian duct anomalies 135.Diagnosis
Clinical Presentation: Primary amenorrhea, normal female phenotype, and absence of uterus and upper vagina 15.
Associated Anomalies: Commonly includes anorectal malformations (ARM), renal malformations, vertebral anomalies, and sometimes esophageal atresia and cardiac malformations 13.
Diagnostic Imaging: High-resolution ultrasound (US) with water vaginography is crucial for identifying genitourinary anomalies, including renal agenesis, uterine malformations, and duplicated vaginas 5.
Genetic Testing: Karyotype typically shows 46,XX; Y-linked gene presence (e.g., TSPY) detected via nested PCR may provide additional insights 3.Management
Neovagina Creation: Laparoscopic-perineal neovagina construction using sigmoid colpoplasty offers functional and anatomic benefits with minimal complications 4.
Hormonal Therapy: Management often includes hormone replacement therapy to induce secondary sexual characteristics and manage associated hypergonadotropic hypogonadism 3.
Psychosocial Support: Essential for addressing psychological and social impacts, particularly in pediatric patients 1.Special Populations
Pediatrics: Early diagnosis possible through associated anomalies like ARM, with median diagnosis age as young as 2.6 years 1.
Comorbidities: Hyperandrogenemia is common but does not necessarily correlate with acne prevalence, suggesting unique endocrine profiles 2.Key Recommendations
Utilize high-resolution ultrasound with water vaginography for accurate diagnosis of MRKH syndrome and associated anomalies (Evidence: Moderate) 5.
Consider laparoscopic-perineal sigmoid colpoplasty for neovagina construction due to its favorable outcomes and low complication rates (Evidence: Weak) 4.
Provide comprehensive hormonal therapy and psychosocial support tailored to the individual needs of pediatric patients diagnosed with MRKH syndrome (Evidence: Expert opinion) 12.References
1 Yano K, Harumatsu T, Sugita K, Muto M, Kawano T, Ieiri S et al.. Clinical features of Mayer-Rokitansky-Küster-Haüser syndrome diagnosed at under 16 years old: results from a questionnaire survey conducted on all institutions of pediatric surgery and pediatric urology in Japan. Pediatric surgery international 2022. link
2 Rall K, Conzelmann G, Schäffeler N, Henes M, Wallwiener D, Möhrle M et al.. Acne and PCOS are less frequent in women with Mayer-Rokitansky-Küster-Hauser syndrome despite a high rate of hyperandrogenemia: a cross-sectional study. Reproductive biology and endocrinology : RB&E 2014. link
3 Plevraki E, Kita M, Goulis DG, Hatzisevastou-Loukidou H, Lambropoulos AF, Avramides A. Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-Hauser syndrome. Fertility and sterility 2004. link
4 Darai E, Toullalan O, Besse O, Potiron L, Delga P. Anatomic and functional results of laparoscopic-perineal neovagina construction by sigmoid colpoplasty in women with Rokitansky's syndrome. Human reproduction (Oxford, England) 2003. link
5 Rosenberg HK, Sherman NH, Tarry WF, Duckett JW, Snyder HM. Mayer-Rokitansky-Kuster-Hauser syndrome: US aid to diagnosis. Radiology 1986. link