Gonadal dysgenesis and Rokitansky syndrome. A case report.

BACKGROUND: Primary amenorrhea and lack of sexual development occur in gonadal dysgenesis due to missing ovaries. Primary amenorrhea with sexual development occurs in Rokitansky syndrome due to absence of the uterus, with normal ovarian function. The association of these two conditions has been previously described as a rare event. CASE: A 19-year-old woman presented with primary amenorrhea and lack of secondary sexual characteristics. Physical examination confirmed the absence of mammary development and of pubic and axillary hair. Pelvic ultrasound disclosed absence of the uterus and ovaries. Gonadotropin serum levels were in the menopausal range, and the karyotype showed two mosaic cell lines, 45,X/46,Xdic(X). Scanning of a large number of cells by interphase fluorescence in situ hybridization showed 12% of cells with a dicentric X chromosome. Laparoscopic study confirmed the absence of the uterus and ovaries, with normal fallopian tubes. CONCLUSION: This patient had two anomalies affecting reproductive performance, gonadal dysgenesis and congenital absence of the uterus, the first associated with an abnormal karyotype; the second seems to have occurred coincidentally. At this time there is no treatment for the reproductive dysfunction.     

Combination of the Mayer—Rokitansky—Küster and Klippel—Feil syndrome — a case report and literature review

The combination of the Mayer—Rokitansky—Küster (MRK) syndrome and the Klippel—Feil (KF) syndrome occurring in the same patient is described. Thirteen similar cases were also found in the literature. Skeletal defects have been known to occur in 10–20% of patients where aplasia of the vagina was diagnosed.     

Sigmoid neovagina by combined laparoscopic-perineal route for Rokitansky syndrome

OBJECTIVE: To evaluate the feasibility of a combined laparoscopic-perineal procedure to create a neovagina. PATIENTS AND METHODS: We reported four cases of patients with a Mayer-Rokitansky-Küster-Hauser syndrome. The surgical procedure was the same for all patients. The results have been evaluated on the operative time, the intra and postoperative complications, the first day haemoglobin drop, the antalgic drugs consumption, the transit recovery, the hospital stay, and the neovagina length. RESULTS: The mean operative time was 311 minutes. The mean haemoglobin drop was 2.3 g/dl. The mean paracetamol, nonsteroidal anti-inflammatory (NSAID), and morphine consumption were: 16 g, 216.7 mg, and 12.6 mg, respectively. The mean transit recovery, and hospital stay were: 2.3 days, 6.5 days, respectively. No intra or postoperative complication occurred. The mean neovagina length evaluated at one month follow-up visit was 12 cm. DISCUSSION AND CONCLUSION: This surgical technique appeared feasible and reproducible for teams having an adequate experience in laparoscopic gynaecologic and digestive surgery. This technique allowed to obtain a neovagina with enough length and without any shrinkage. Laparoscopy reduces the psychological and aesthetic consequences of surgery, especially for these young patients already distressed by their malformation.     

Rokitansky syndrome and MURCS association--clinical features and basis for diagnosis

OBJECTIVE: To describe 19 cases with Rokitansky syndrome, as well as their endocrine features, and other associated malformations. METHODS: Nineteen cases of utero-vaginal atresia are reported. Serum levels of luteinizing hormone, follicle stimulating hormone, prolactin, estradiol, and progesterone were measured. Genetic study was done by karyotype and X chromatin. Pelvic ultrasound was performed, and searches for associated urinary and bone malformations were done by intravenous pyelogram and spinal column X-rays, respectively. RESULTS: In all patients, mammary growth began between 9 and 12 years, and pubic hair growth between 11 and 14 years. Nine of them sought advice for primary amenorrhea, and 10 for difficulty in sexual intercourse. Thirteen patients had begun sexual activity, between 18 and 30 years of age; six of them had dyspareunia, and in four it was impossible to have sexual intercourse, but three reported satisfactory sexual relations. External genitalia were normal in all, vaginal length was between 0.5 and 7 cm, and in all ended in a blind pouch. On pelvic ultrasound, normal ovaries and absent uterus were delineated; only one had polycystic ovaries. All had a 46XX karyotype and positive X chromatin. Hormone levels were normal in 16, 3 had hyerprolactinemia. In 7 out of 11 in whom progesterone was measured, it was ovulatory. In 8 out of 11, the pyelogram was abnormal, and in the same number, skeletal anomalies were found. CONCLUSIONS: In three patients, MURCS association was documented. It is proposed as an easy and minimally invasive study protocol for diagnosis.     

Davydov's procedure for the treatment of neovaginal prolapse in Rokitansky syndrome

A 19-year-old woman with Rokitansky syndrome with neovaginal prolapse following self-dilation showed vaginal vault eversion of a 4- × 3-cm neovagina. A modified Davydov procedure was performed. No complications occurred. Vaginoscopy after 6 months showed an iodine-positive 8- × 3-cm neovagina. Functional results were assessed with the Female Sexual Function Index.     

Neovagina construction by combined laparoscopic-perineal sigmoid colpoplasty in a patient with Rokitansky syndrome

We created a neovagina by sigmoid colpoplasty using a combined laparoscopic-perineal approach in a 19-year-old woman with Rokitansky syndrome. Operating time was 4 hours and 45 minutes. No perioperative or postoperative complications occurred. Hemoglobin level fell by 1 g/dl. Total doses of morphine, nonsteroidal antiinflammatory drugs (NSAIDs), and paracetamol were 20 mg, 350 mg, and 28 g, respectively. Hospital stay was 7 days. The length of the neovagina was 12 cm. By comparison, in the three reported cases of laparotomic-perineal sigmoid vaginoplasty, mean operating time was 5 hours and 40 minutes; 24-hour fall in hemoglobin was 3.2 g/dl (range 2.1-4.3 g/dl); mean doses of morphine, NSAIDs, and paracetamol were 42.6 mg, 300 mg, and 40 g, respectively; mean hospital stay was 11.3 days; and length of neovaginas was 10, 12, and 12 cm. Although sigmoid colpoplasty is a reliable and reproducible technique, it requires experience in laparoscopic colonic surgery. The combined laparoscopic-perineal approach is associated with less analgesic requirement, shorter hospital stay, and similar anatomic results compared with the laparotomic-perineal approach.     

Laparoscopic creation of a neovagina in patients with Rokitansky syndrome: analysis of 52 cases

OBJECTIVE: To evaluate the surgical feasibility and the long-term anatomic and functional results of a new procedure that uses the endoscopic approach to treat uterovaginal agenesis, known as Rokintansky syndrome. DESIGN: Evaluation of surgical feasibility and recording of clinical data over a 12-month follow-up. SETTING: Tertiary referral center for the treatment of female genital malformations. PATIENT(S): Fifty-two patients with vaginal agenesis. Intervention(s): The laparoscopic version of the Vecchietti method was used to create a neovagina. MAIN OUTCOME MEASURE(S): Anatomic success was defined as a neovagina >/=6 cm long, allowing easy introduction of two fingers, within 6 months after corrective surgery. Functional success was considered achieved if the patient reported satisfactory sexual intercourse starting from 6 months after surgery. RESULT(S): The surgical procedure was performed with no major complications and with 100% anatomic success; functional success was obtained in 98.1% of the study population. CONCLUSION(S): In patients with Rokitansky syndrome, the laparoscopic approach for creating a neovagina by the Vecchietti method is simple, safe, and effective.     

Gestational carrier is an optimal method for pregnancy in patients with vaginal agenesis (Rokitansky syndrome)

OBJECTIVE: To evaluate the results of successful pregnancy for patients with Mayer-Rokitansky-Kuster-Hauser syndrome using a gestational carrier. METHODS: All gestational carrier patients who attended our infertility clinic between 1995 and 2002 were reviewed for this study. Of the patients, 6 women with MRKH syndrome had 12 ovarian stimulation cycles, which resulted in 12 fresh and 5 frozen embryo transfers into six gestational carriers. RESULTS: The mean number (+/-SD) of embryos obtained per cycle was 4.8 (+/-2.9). Either two (n = 15) or three (n = 2) embryos were transferred to the gestational carrier. Three pregnancies were achieved following fresh embryo transfer, which included one clinical pregnancy that ended in spontaneous abortion, a singleton, and a set of twins. The pregnancy rate for fresh embryo transfer was 25% per retrieval and 50% per patient. No pregnancy was achieved following frozen embryo transfer. CONCLUSION: Gestational carrier is shown to be an effective treatment for patients with Mayer-Rokitansky-Kuster-Hauser syndrome.