Mayer-Rokitansky-Kuster-Hauser syndrome, a clinical report

Abstract

MRKHS syndrome refers to the congenital aplasia or severe hypoplasia of the structures that derive from the Müllerian ducts, including the upper 2/3 of the vagina, the uterus and the fallopian tubes, in some cases there may be alterations of the bone and kidney system. The patients present a female karyotype 46, XX with an efficient ovarian function with normal development of secondary sexual characteristics. The incidence of MRKHS syndrome has been estimated in 1 case per 4000-5000 female newborns. It is considered as a sporadic condition that affects women without an ethnic or geographical predisposition. It is thought that the mode of inheritance is autosomal dominant with incomplete penetrance with variable expressiveness. The diagnosis of the syndrome will be made through a detailed medical history, hormonal tests that can rule out any other origin of amenorrhea, imaging tests that allow us to differentiate the pelvic anatomy and also performing a karyotype exam to corroborate a normal female genotype 46, XX. Regarding the treatment of the syndrome, what is sought is the formation of a neo-vagina in order to improve the patient's quality of life. The treatment can be based on surgical or non-surgical techniques such as progressive dilatations.

For a detailed analysis of the syndrome, I will report a case of a 17-year-old female patient diagnosed with MRKHS, treated at the Gynecology-Obstetrics Service of the Hospital de Especialidades Carlos Andrade Marín since 2017.