Mayer-Rokitansky-Küster-Hauser syndrome type 1

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, also known as Rokitansky sequence or isolated Müllerian aplasia, is a congenital condition characterized by the absence or severe underdevelopment (agenesis or aplasia) of the uterus and the upper two-thirds of the vagina in individuals who are genetically female (46,XX karyotype). Type 1 is the isolated form of MRKH syndrome, meaning the Müllerian duct abnormalities occur without significant associated malformations of other organ systems, distinguishing it from the more complex type 2 form. Affected individuals have normally functioning ovaries, normal external genitalia, normal secondary sexual characteristics (breast development, pubic and axillary hair), and a typical female karyotype. The condition is most commonly diagnosed during adolescence when an individual presents with primary amenorrhea (absence of menstrual periods) despite otherwise normal pubertal development. Because the ovaries function normally, hormonal profiles are typically within the expected female range, and secondary sexual characteristics develop as expected. The lower portion of the vagina may be present as a shallow dimple or short pouch. Since the uterus is absent or rudimentary, natural pregnancy is not possible, though biological motherhood may be achieved through assisted reproductive technologies using the patient's own oocytes with gestational surrogacy, or more recently through uterine transplantation, which has resulted in successful pregnancies and live births in some centers. The primary treatment for MRKH syndrome type 1 focuses on the creation of a functional neovagina to allow for sexual intercourse. First-line treatment is typically non-surgical vaginal dilation therapy (Frank method), which uses graduated dilators to progressively lengthen the vaginal canal. When dilation therapy is unsuccessful, surgical vaginoplasty procedures such as the McIndoe technique, Vecchietti procedure, or Davydov procedure may be considered. Psychological support and counseling are important components of care, as the diagnosis can have significant emotional impact related to fertility, sexuality, and identity. Long-term outcomes with appropriate management are generally favorable, and affected individuals can lead full, healthy lives.

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