Background. Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), a failure of female urogenital development, typically results in a completely stenotic or rudimentary dimple vagina, both of which are generally nonfunctional in adulthood without mechanical dilation or surgical reconstruction. Case. A 20-year-old Tanner stage V heterosexual woman with normal sexual function since coitarche presented with a chief complaint of primary amenorrhea. She was found to have aplastic uterine buds, absent endometrium/cervix, normal ovaries, and an unusually well-developed lower vagina, a rare presentation of MRKHS. We discuss mechanisms by which the anomaly may have arisen. Summary & Conclusion. This case thus expands the clinical presentation of MRKHS to include a normal appearing vagina with intact sexual function from first sexual encounter, raising interesting questions about the basic underlying embryology.
Congenital anomalies of the female reproductive tract are relatively common and can be both confusing to understand as well as challenging to diagnose and manage in a busy pediatric clinical practice. Here, we lay out some of the most common genitourinary tract anomalies in female pediatric patients. We highlight the key embryologic development, present case examples, and discuss appropriate testing, treatment, and counseling for patients and their families regarding congenital disorders of the vulva, vagina, uterus, ovaries, and associated pathology. The goal of this review is to demystify these conditions and provide a practical guide for the general pediatrician who is often at the frontline making the initial diagnosis and caring for these patients.
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Pediatr Ann
. 2020;49(4):e188–e195.]
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