Rokitansky Syndrome, the name used in Brazil for the congenital disease that affects the female reproductive system, with alterations in the development of Müllerian structures, appears in the world literature under the term MRKH, initials of all the doctors who described it (Mayer, Rokitansky, Kuster and Hauser). Perhaps one day we can simply call it Roki Syndrome. Classified into two types: • Type I, with isolated involvement of the reproductive organs, with an incidence of 1:5,000 women; • Type II, with associations of systemic alterations, with an incidence of 1:10,000-15,000 women.

• Vaginal canal with reduced depth and diameter or complete agenesis; • Absent or underdeveloped uterus; • Ovaries and fallopian tubes with normal development; • External genitalia (clitoris, urethra, hymen, vaginal lips) and anus with normal development.

• Renal alterations with unilateral agenesis, horseshoe kidney, hydronephrosis, pelvic kidney, ectopic ureter; present in approximately 40% of women with type II; • Bone alterations with scoliosis, spina bifida, syndactyly, polydactyly or ectrodactyly, in approximately 30-40% of women with type II; • Auditory alterations, with sensorineural hearing loss in 10-25% of women with type II; • Cardiac alterations, with atrial septal or conotruncal defects in 2-3% of women with type II; • Gastrointestinal alterations, with imperforate anus or other anorectal malformations; • Abdominal alterations with single or multiple abdominal hernias.

The cause of Rokitansky Syndrome is still unknown. The presence of cases in the same family and recent research indicate possible genetic causes, with involvement of the LHX1, SHOX, and TBX6 genes. Ongoing studies should help elucidate the genetic profile of the disease.

The development of sexual characteristics is normal, so seeking medical help occurs due to amenorrhea, difficulty, or pain during sexual intercourse. The common age for diagnosis occurs between 13 and 18 years, sometimes anticipated due to accidents, urinary incontinence, or pelvic pain. The most common exams are: • Gynecological physical exam shows normal external genitalia and altered vaginal canal; • Imaging exams such as pelvic ultrasound, the main screening exam, show the absence or underdevelopment of the uterus, the normality of the ovaries, and the renal characteristics. Magnetic resonance imaging can help visualize internal female reproductive structures in more detail; • Blood tests show normal sexual hormone profile and female karyotype (46,XX).

Medical groups specialized in Rokitansky Syndrome, in Brazil and worldwide, recommend vaginal dilation as the first treatment option for vaginal construction. Surgical options should be discussed if dilation is unsuccessful. It is important that the medical team pay attention and sensitivity to respect the appropriate moment to start dilation. Often, the patient prefers to wait a period between diagnosis and the start of treatment.

The technique of progressive dilation, known as the Frank Method, was first described in 1938. The success rate is directly related to the guidance provided by healthcare professionals who educate their patients about this method. The plastic dilator kit includes 5 or 6 sizes ranging from 6 to 15 cm in length. The first dilator should be used daily, if possible, for sessions between 20 and 30 minutes. With vaginal extension, the immediately larger dilator is introduced until treatment is completed with the use of the larger dilators, which can reach lengths between 14 and 15 cm. The treatment varies between 6 and 12 months, with reports of shorter processes, between 3 and 6 months, when the dilation exercise is done 2 to 3 times a day. Reports of longer duration, over 12 months, have been made by patients who frequently interrupt dilations. Medical evaluations are recommended on a monthly or every 2-month interval. It is important to evaluate if the patient is applying pressure in the appropriate location and at the correct angle. Regulated continuity in treatment increases the success rate and adherence to it.

Vaginoplasty, or neovaginoplasty, is indicated in case of persistent failure of clinical treatment. At the appropriate time, the medical team should discuss surgical possibilities and the team's experience with each technique with the patient and their family. In the 19th century, surgical techniques used parts of the intestine to construct the neovagina. Side effects such as mucous secretion in the area, bleeding, and pain led to a decrease in the use of this technique and the development of several others.

Davydov Surgery uses part of the peritoneum for vaginal construction. Cases of discomfort and umbilical pain due to traction are reported.

McIndoe Surgery used skin grafts in a rubber mold. Today, the technique, now called McIndoe-Banister, has evolved in relation to molds and grafts. In the postoperative period, daily use of dilators is necessary for approximately 3 months.

Williams Surgery uses the skin of the labia majora to form a "vaginal pouch". Women who undergo this technique mention discomfort during sexual activity due to the axis of the new vagina, as well as the occurrence of hair growth. Vecchietti Surgery fixes laparoscopic threads that are externally coupled to a traction system in the abdomen. Time, costs, equipment care, and a second surgery to remove the device are the main complaints of patients.

Your patient will likely have a normal sex life after treatment and will have options for motherhood. Sexuality and motherhood are important issues that should be approached with sensitivity and attention by healthcare professionals.

Your patient can use her own egg, partner's sperm, or donor sperm and will be the biological mother of the child.

The first step is the in vitro fertilization procedure, in which eggs and sperm are harvested, and embryos are created and frozen for later use (so far, the same process for surrogate motherhood). Next, it is necessary to find a compatible uterine donor, and the transplant surgery is performed. The interval of months, or up to a year, in which immunosuppressants are used, is necessary until the embryo implantation stage. The immunosuppressant is maintained throughout the pregnancy, being suspended only after the cesarean section and removal of the transplanted uterus. Complications at all stages are reported. Some babies born from transplanted uteri already exist in the world. We remind you that the first transplant of a uterus from a deceased donor occurred in Brazil in 2016. Currently, the procedure is performed on an experimental basis and indicated only for women who have not undergone previous surgical neovaginoplasty.

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Eur Radiol. 2020 Mar 5. doi: 10.1007/s00330-020-06681-4.

Chin Med J (Engl). 2020 Feb 20;133(4):388-394

Med Genet. 2018;30(1):3-11. doi: 10.1007/s11825-018-0173-7.
https://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome#genes

https://www.beautifulyoumrkh.org

https://www.uclh.nhs.uk

https://www.fertstert.org/article/S0015-0282(17)30398-9