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How is Rokitansky syndrome diagnosed?

By Sergio Rogel Cayetano M.D. (gynecologist).
Last Update: 07/08/2022

Rokitansky-Kuster-Hausser syndrome is a malformation of the female genital tract related to dysfunction in the area of one of the cellular tissues involved in the formation of the female genital organs. As several embryonic tissues are involved in this formation, the result is the absence of fragments of the genital apparatus, but the normal presence of others. Thus, this syndrome is characterized by the absence of the upper two thirds of the vagina and uterus. However, these patients will have normal ovaries, vulva and vaginal opening.

Presenting in this way, it is easy to understand that this syndrome usually goes unnoticed by parents and pediatricians, who have before them a girl without any external alteration, in whom a normal vagina and vulva can be seen. In addition, since ultrasound examinations during pregnancy do not clearly visualize the uterus of girls, since it is a very small internal organ at this stage, the gynecologist will not usually be able to diagnose it before the baby is born.
Thus, it is a late, although relatively easily diagnosed syndrome.

Usually the doctor is alerted by primary amenorrhea (absence of menstruation) in a woman of menstrual age Another very frequent situation, in which the possibility of this syndrome should be studied, is in patients who have tried to have their first sexual intercourse without success. They usually come to the office complaining that the hymen is very hard and the male has not been able to complete penetration.

After the warning signs are seen, the diagnosis is simple. Vaginal examination shows the presence of a normal vulva and a very short vagina (approximately 2 cm). A simple gynecological ultrasound will demonstrate the absence of the upper two thirds of the uterus and vagina.

Some variants of this syndrome may present a rudimentary uterus or be associated with alterations of the reno-urethral system, so it is worthwhile to investigate further with a Nuclear Magnetic Resonance Imaging or IV urography.

 Sergio Rogel Cayetano
Sergio Rogel Cayetano
M.D.
Gynecologist
Bachelor's Degree in Medicine from the Miguel Hernández University of Elche. Specialist in Obstetrics & Gynecology via M. I. R. at Hospital General de Alicante. He become an expert in Reproductive Medicine by working at different clinics of Alicante and Murcia, in Spain, until he joined the medical team of IVF Spain back in 2011.
License: 03-0309100
Gynecologist. Bachelor's Degree in Medicine from the Miguel Hernández University of Elche. Specialist in Obstetrics & Gynecology via M. I. R. at Hospital General de Alicante. He become an expert in Reproductive Medicine by working at different clinics of Alicante and Murcia, in Spain, until he joined the medical team of IVF Spain back in 2011. License: 03-0309100.