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Review
. 2025 May 16:47:e-FPS4.
doi: 10.61622/rbgo/2025FPS4. eCollection 2025.

Mayer-Rokitansky-Kuster-Hauser syndrome

Claudia Cristina Takano Novoa  1 , Mila Torii Correa Leite  1 , Marair Gracio Ferreira Sartori  1
Affiliations
Review

Mayer-Rokitansky-Kuster-Hauser syndrome

Claudia Cristina Takano Novoa et al. Rev Bras Ginecol Obstet. .

Abstract

•Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is the leading cause of vaginal agenesis. •It is characterized by primary amenorrhea with typical adrenarche and telarche and may be associated with congenital urological and skeletal conditions that should be investigated. •Differential diagnoses include: vaginal obstructions (imperforate hymen, distal vaginal atresia, transverse vaginal septum), uterine obstructions (cervical atresia), and differences in sexual development (gonadal dysgenesis, complete androgen insensitivity and congenital adrenal hyperplasia due to CYP17 deficiency). •Laboratory tests (testosterone, follicle-stimulating hormone [FSH] and karyotype) and radiological tests (pelvic ultrasound and MRI) are necessary. •Vaginal dilation is the first line of treatment with high success rates.

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Conflict of interest statement

Conflicts of interest: none to declare.

Figures

Figure 1
Figure 1. Positioning of the dilator in the distal vagina. Note the correct direction of the dilator on the pink line at an angle to the horizontal plane (black line).
See this image and copyright information in PMC

References

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