Mayer-Rokitansky-Kuster-Hauser Syndrome Workup

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

Laboratory Studies

In the workup for possible Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (also referred to as Mayer-Rokitansky syndrome or Rokitansky-Küster-Hauser syndrome), chromosomal analysis is essential to exclude karyotypic abnormalities of the X chromosome (eg, Turner syndrome, which does not cause MRKH syndrome, but can cause primary amenorrhea). Chromosome analysis can rule out complete androgen insensitivity syndrome (AIS); these individuals have female external genitalia but a 46,XY karyotype.

Normal circulating levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) indicate appropriate ovarian function. Human chorionic gonadotropin (hCG) levels are negative and are not checked. Testosterone levels can be assayed and are in the normal female range for MRKH syndrome and in the normal male range for AIS.

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Imaging Studies

Ultrasonography

Ultrasonography is an excellent imaging modality for MRKH syndrome, in that it requires no radiation and is both noninvasive and inexpensive. Ultrasonography easily depicts the upper level of the vagina and the length of its obstruction. It can also be used to identify uterine duplications and tubal obstruction. It simultaneously allows assessment of the kidneys and bladder for abnormalities and visualization of some vertebral anomalies.

Magnetic resonance imaging

Magnetic resonance imaging (MRI) provides excellent images of superficial and deep tissue planes. [9] It can clarify inconclusive ultrasonography results concerning cavitation of the uterus. In addition, it improves assessment of subperitoneal structures and detects the presence of a cervix. MRI can be used to image the spine if vertebral anomalies are suspected, as can plain films. Magnetic resonance urography (MRU) is an excellent imaging modality for visualization of both the reproductive and the urinary anatomy, as well as for function.

Laparoscopy

Laparoscopy provides only indirect assessment of uterine cavitation. Hysteroscopy (examining inside the endometrial cavity) confirms cavitation; however, MRI is also excellent for this. Laparoscopy is used in patients who also present with abdominal pain to evaluate and possibly resect the müllerian horn. Therapeutic laparoscopic surgery can also be performed in the same setting. Laparoscopy is the preferred procedure when uterine remnants or endometriosis causes cyclic pelvic pain necessitating excision.

Pyelography

Intravenous pyelography (IVP) is warranted for assessment of renal structure. Retrograde pyelography can be used to assess the renal collecting system and does not require intravenous contrast injection. This technique requires cystoscopy.

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Histologic Findings

The uterine anlage may have unilaterally functioning endometrial tissue; bilateral function is rare. Hematometra develops and may lead to endometriosis. The myometrium appears thinner than usual.

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