Mayer-Rokitansky-Kuster-Hauser Syndrome Clinical Presentation

Updated: Apr 08, 2016
  • Author: Andrew J Kirsch, MD, FAAP, FACS; Chief Editor: Andrea L Zuckerman, MD  more...
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Presentation

History

The following may be observed in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (also referred to as Mayer-Rokitansky syndrome or Rokitansky-Küster-Hauser syndrome).

Primary amenorrhea and possible cyclic abdominal pain

These symptoms are common in individuals with MRKH syndrome. The patient undergoes puberty with normal thelarche and adrenarche; however, menses do not begin. Patients may report cyclic abdominal pain due to cyclic endometrial shedding without a patent drainage pathway. Because ovarian function is normal, patients experience all bodily changes associated with menstruation and puberty.

Infertility

Patients who do not undergo evaluation for primary amenorrhea often seek clinical attention for infertility. However, patients rarely proceed to infertility evaluation without ever having had menses because of MRKH syndrome. Although the ovaries function normally, the fallopian tubes may be closed, and the uterus is often anomalous.

Inability to have intercourse

The degree of vaginal aplasia can vary from complete absence to a blind pouch. The more shallow the canal, the greater the likelihood of the patient having dyspareunia.

Renal malformations

Absence or ectopia of the kidneys is common. Diagnosis can lead to discovery of renal anomalies. Some patients present with a history of voiding difficulties, urinary incontinence, or recurrent urinary tract infections (UTIs).

Vertebral anomalies

Skeletal findings range in severity and clinical importance. Scoliosis is the most common of the skeletal anomalies.

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Physical Examination

Normal secondary female sexual characteristics are present after puberty. Height is normal.

Speculum examination of the vagina may be impossible or difficult because of the degree of vaginal agenesis. The vulva, labia majora, labia minora, and clitoris are normal. A palpable sling of tissue may be present at the level of the peritoneal reflection.

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