(123) Suspected MRKH in the setting of primary amenorrhea and VACTERL

Background: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, affecting 1 in 5000 females, is a mullerian anomaly characterized by uterovaginal malformation with the diagnosis typically following investigation of primary amenorrhea (1). Vater Syndrome (VACTERL) is a broad term describing a constellation of congenital abnormalities with an estimated incidence of 1 in 10,000 to 40,000 births (2). Here we present a case of MRKH with co-existing VACTERL to highlight commonalities in presentation with the goal to improve knowledge, early identification, and opportunities for research.

Case: 15-year-old, Hispanic female referred to endocrine for evaluation of primary amenorrhea. Patient with past medical history of thyroid nodule, mild persistent asthma, vitamin D deficiency, speech delay and Vater Syndrome. Reproductive and thyroid hormones were found to be within normal range. Physical exam consistent with female external genitalia, normal secondary sexual characteristics, Tanner staging III breast development, Tanner V pubic hair and axillary hair present. Undetected uterus and right ovary on pelvic sonogram, result obscured by bowel gas. Abdominal/ Pelvic MRI confirmed absent uterus, visualization of bilateral ovaries with 2.9cm cyst, and short segment of distal vagina. Clinical findings indicative of MRKH warranting prompt referral to adolescent gynecology.

Comments: The co-occurrence of MRKH and Vater syndrome is extremely rare with limited case studies (3). Specific subtypes of MRKH may mirror or overlap with VACTERL and can lead to partial/misdiagnosis and/or under detection of MRKH. Standardization of genetic testing and pelvic sonogram/MRI should be considered with suspicion of either disorder in utero, infancy and adolescence. Further research on this topic is indicated in addition to provider education, as there is a shortage of pediatric gynecologists who specialize in congenital malformations. Prompt identification can guide treatment options for the developing child and may be instrumental in preserving sexual health and embryonic function.