Rokitansky-Kuster-Hauser Syndrome (RKH Syndrome) is a rare anomaly, characterized by total mullerian aplasia, resulting in congenital absence of the vagina, and presence of a rudimentary uterus in the form of bilateral and non-canaliculated muscular buds, accompanied with normal female secondary sexual characters, Fallopian tubes, ovaries, and endocrine and cytogenetic evaluations. Often the anomaly may be found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations. It is the second most common cause of primary amenorrhea.
Only one in approximately 4,000 -5,000 girls are born with this condition. In most cases, the disease is not recognized until puberty is reached and the patient is evaluated for amenorrhea. However, occasionally diagnosis may occur at birth or in early childhood due to other health problems. A pelvic ultrasound and/or a laproscopic analysis is usually performed to diagnose the anomaly. Sometimes, a karyotypic analysis may also be performed, to rule out any cytogenetic abnormality. The most popular treatment for the RKH syndrome is a surgical reconstruction of the vagina. This involves implantation of a stent, which is covered by skin grafts. Non-surgical procedures involve using dilators to manually expand the tissue between the bladder and rectum. More important than the treatment strategy, however, is the psychological management of the patient and her family.
Al-Arrayed (2006) reported an 18-years-old Bahraini female with primary amenorrhea and normal secondary sexual characteristics who was referred for chromosomal studies. The patient is born to a non-consanguineous family with no family history of amenorrhea. She had three sisters; her mother and the second sister had menarche at age 15. Karyotype analysis showed normal female chromosomal complement and banding patterns. Pelvic ultrasound showed normal ovaries, but no uterus was seen. Both kidneys are normal with possibility of medullary nephrocalcinosis. MRI of the pelvis confirmed the ultrasound impression of absent uterine tissues as well as the cervix. The caudal aspect of vagina could not be clearly made; there was an out-blind vagina with normal appearance of the labia.
[Al-Arrayed, personal communication, Salmaniya Medical Complex, Al Manama, Bahrain, 28.12.2006.]
Saadi et al. (1999) reported the presence of a leiomyoma which developed from a fibrous myometrial band in a woman with Rokitansky-Kuster-Hauser syndrome. The diagnosis was suspected at physical examination and pelvic ultrasonography and laparoscopy. Histology confirmed leiomyoma. Saadi et al. (1999) considered the co-presence of these features as exceptional.
Benchekroun et al. (2003) reported two patients who presented with the Rokitansky-Kuster-Hauser syndrome. Anatomic and functional results were satisfactory with no vagina stenosis. The patients are sexually active.
Pandey and Hamdi (2003) reported a 24 year old nullipara female who presented with primary amenorrhoea. There was no similar history in her female siblings and there was no history of drug exposure in utero, and she had no coital problems with her husband (married for one year). Examination revealed a healthy female with normal breast development and hair distribution and normal external genitalia except for a two cm dimple at the place of the vagina, and no cervix or uterus were felt on bimanual examination. Ultrasound examination revealed normal kidneys, hypoplastic uterus with no endometrial or myometrial differentiation (3.2cm, 1.4cm and 2.6 cm in dimensions), and the ovaries were difficult to be seen. Investigations revealed a normal female with a 46XX karyotype and normal hormonal levels of Leutnizing hormone, FSH, Prolactin, and Estradiol. She was examined under anesthesia and diagnostic laproscopy was carried out which showed blind vagina with absent uterus (replaced by mullerian tissue on both sides of the pelvis and attached to round ligaments which passed through the internal inguinal ring), and normal ovaries (confirmed by histological examination) and fallopian tubes. Accordingly, the diagnosis of Mullerian agenesis was made and since there were no coital problems, a neovagina was not created. Instead, the couple was counseled and the problem of infertility was explained to them.
Al-Jaroudi and Nasser (2008) described an-18 year- old Saudi girl who was brought to medical attention due to absence of menses. Her past medical and surgical histories were unremarkable. She was born to second cousin parents and had a negative family history of primary amenorrhea, chromosomal abnormality or congenital defects. On examination, she was found to have normal breast, axillary and vulva. However, her vagina was described as blind measuring 2cm length. Her investigations were normal, except for prolactin, which was high (1517Miu/L) and luteinizing hormone, which was low (2.73IU/L). Ultrasound showed normal ovaries and rudimentary uterus. Pelvic MRI showed small uterus that lacked endometrial tissue. She was diagnosed with mullerian hypoplasia and hyperprolactinemia and treated with cabergoline twice-weekly for three months. Her prolactin level after treatment decreased to 332Miu/L. The authors concluded that the association between mullerian aplasia or hypoplasia and hormonal variation may represent a distinct syndrome.
Al Omari et al. (2011) reported a 31-year old married woman, who is the third case reported at that time with 46,XX Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome associated with utero-ovarian inguinal hernia. The patient was treated by counseling, ovarian biopsy, repositioning of the uterus, fallopian tube, and ovary, herniorrhaphy, and Williams vulvovaginoplasty.