Mayer-Rokitansky-Litister-Hauser Syndrome (Mtillerian Duct Agenesis): Report of Two Cases
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Mayer-Rokitansky-litister-Hauser syndrome (mtillerian duct agenesis): Report of two cases ROGER GUTHRIE, D.O. JOHN BUGGELN, D.O. RALPH MARTIN, D.O. Grand Rapids, Michigan to be inadequate and should be descriptionally Mdllerian duct agenesis typically changed to miillerian duct agenesis. results in normal ovaries, fallopian Two cases are reported to illustrate the diagnos- tubes meeting in the midline and tic approach. fusing, absence of uterus and vagina, with the presence of normal external Case 1 genitalia, and secondary sexual A 19-year-old black woman was admitted June 26, 1978, characteristics. The presenting chief with the complaint of cyclic headaches, dizziness, irrita- complaint is primary amenorrhea or bility, abdominal cramping, and backache every month failed intercourse. The first of the two without menses. The past medical history was noncon- cases reported is the classic syndrome. tributory. The surgical history included ventral hernia repair in infancy and repair of rectal prolapse at age 2 The second case varied in that the years. The family history revealed that the mother had right fimbriated fallopian tube ended sickle cell trait, hypertension, and diabetes controlled by in a blind stub 1 cm. in size and the left diet and oral hypoglycemic agents. The patient had five side had no fallopian tube but had a brothers and five sisters, all normal for their ages. The round ligament ending at the uterine patient admitted to normal secondary sexual develop- remnant stub. Diagnostic workup and ment without menarche. treatment can only be initiated by a Physical examination revealed the normal female sec- complete history and physical ondary sex characteristics. However, the vaginal open- examination. In the absence of a ing was less than 1 cm. in diameter and only 1 cm. deep. uterus or vagina, the differential An intravenous pyelogram yielded normal findings. diagnosis includes testicular Barr bodies were present and the karyotype was 46 XX. Laparoscopy revealed normal ovarian tissue with feminization testes or XY gonadal bilateral fallopian tubes merging and fusing in the mid- agenesis. Karyotyping gives the line without evidence of any uterine tissue (Fig. 1). answer. Because of the commonly The patient was referred for vaginoplasty by the McIn- associated urologic anomalies, an doe procedure, which resulted in a functionally adequate intravenous pyelogram is indicated. vagina. Psychologic counseling was of assistance con- Surgical and psychologic cerning sexual identity, body image, and extent of management should result in a physiologic surgical correction. sexually functional patient. Long-term gynecologic followup is Case 2 recommended. A 17-year-old white girl was admitted February 8, 1979. The chief complaint was attempted and failed inter- course. Questioning of the patient revealed primary amenorrhea. The family history included a 22-year-old sister diagnosed as having no uterus. The mother had The term "Mayer-Rokitansky-Kiister-Hauser syn- diet-controlled diabetes and the father had hypertension, drome" (MRKH) is the eponym for congenital ab- myocardial infarction, and stroke in his history. The sence or hypoplasia of the vagina. The incidence is patients past medical history was noncontributory. The reported to be 1 in 4,000 or 5,000. 1 The etiology surgical history included only tonsillectomy and is unknown, but involves a specific early arrest adenoidectomy at age 15 years. The patient admitted to normal secondary sexual characteristic changes without (seventh week) in the embryologic development of menarche. the miillerian ducts with resultant vaginal and/or Physical examination revealed normal female body uterine agenesis or hypoplasia with rudimentary habitus, and normal breasts, pubic hair, and external miillerian structures. labia. However, no vaginal opening was evident. At Due to the variability of miillerian duct agene- rectal examination, no internal female genitalia could be sis, the eponym of MRKH syndrome is suggested palpated. An intravenous pyelogram showed normal Miillerian duct agenesis 344/79 Fig. 1. (Case 1.) Miillerian duct agenesis involving fusion of bilateral fallopian tubes without evidence of any uterine tissue. Fig. 2. (Case 2.) Miillerian duct agenesis involving a 1 cm. clubbed, abbreviated, fimbriated right fallopian tube and left unicornous uterine remnant with fibrous round ligament remnant. structures except for a slightly lower left kidney with Discussion entrance of the ureter slightly higher than normal. The The vagina and uterus are developed by canaliza- karyotype was 46 XX. tion of the caudal ends of the fused miillerian Laparoscopy revealed bilateral ovaries. On the right, a ducts continuous above with the fallopian tubes fimbriated fallopian tube was noted at the ovary but was abbreviated 1 cm. proximally by a clubbed end. The left bilaterally and closed below by the cloacal mem- side had no fallopian tube. However, there was a 1-cm. brane. The lower vagina takes origin from the uro- unicornous uterine remnant left of the midline with a genital sinus. During the later stages of develop- fibrous band anatomically coursing laterally and an- ment, a depression appears in the perineal region teriorly, corresponding to the left round ligament (Fig. and gradually deepens. The septum between the 2). The patient was referred for vaginoplasty by the vagina and the exterior becoming gradually thin- Mclndoe procedure, resulting in an 8-cm. deep, func- ner till it finally breaks through. The remains of tional vagina. Psychologic counseling was again of as- this septum form the hymen and the opening is the sistance concerning sexual identity, body image, and ex- vestibule. Various degrees of failure of fusion are tent of physiologic surgical correction. responsible for abnormalities of the uterus and va- 345/80 gina, such as uterus didelphia and septate vagina. A variety of techniques have been used to con- Failure of canalization produces various degrees of struct a vagina. The complications of infection and atresia, of which the mildest is imperforate hymen hemorrhage were significant in all surgical repairs and the most serious complete vaginal absence. initially. Intestinal transplants using ileum, sig- Together, the failure at fusion and canalization moid," or rectum were difficult and prone to pro- results in miillerian duct agenesis or MRKH syn- lapse and excessive irritating discharge. Peduncu- drome. Because the miillerian duct system devel- lated flaps using labial and thigh skin were used to ops in a craniocaudal direction, the ovaries and line the neorectovesical space. Wharton s popu- often the fallopian tubes may be present. The larized simple reconstruction using continuous congenital malformation progresses distally, pro- dilation awaiting reepithelialization over a pro- ducing hypoplasia or agenesis in varying degrees. longed time. The ovaries are well developed, as evidenced by Free grafts became successful with the Mclndoe the normal development of secondary sexual procedure",16.1', "8 utilizing grafted skin from the characteristics. Normal pituitary ovarian hor- hip which was held in place by a continuous, rigid, monal axis has been established regardless of the mold dilator of varied materials. Complications in- presence or absence of the uterus.2 The external cluded rectovaginal and/or cystovaginal fistula as genitalia are normal in the majority of cases. well as graft-take failures. Graft-take failures were Urological anomalies (solitary or ectopic kidney resolved by using nonrigid mold (for uniform or duplication of collecting system) have been asso- pressure approximation), prophylactic antibiotics, ciated with miillerian duct agenesis in nearly half and prolonged, intermittent, convalescent dilation the cases,3- 5 and a variety of spinal abnormalities (to avoid constrictive scarring). The Counseller (cervical spina bifida, lumbar hemivertebra, modification". " of the Mclndoe procedure uses rudimentary first rib, sacralization of the fifth rolled-up foam rubber varied to the size of the lumbar vertebra, dislocation of the hip, and mal- neovagina, placed inside a condom with the skin formation of feet, arms, and ribs have also been graft sutured to the soft mold. Frank"- and Wil- reported. 3- 6 Attempts at explaining the etiology on liams22 offered a simplified technique creating a a cytogenetic basis have failed, 7,8 in spite of famil- small perineal orifice without grafting, utilizing ial occurrences.9"° existing perineal skin and subsequently develop- Diagnostic evaluation includes complete history ing a neovagina by intermittent, progressive self- and physical examination, chromosomal studies, dilation. and laparotomy. The presenting chief complaints David and coworkers" have investigated the are either primary amenorrhea or failed inter- clinical and psychological aspects of counseling for course. The differential diagnosis includes only an- the patient involved in neovagina surgery. Pa- drogen insensitivity syndrome (testicular femini- tients have questions about their body image and zation or variable lack of miillerian inhibitory sexual adequacy that require appropriate answers. factor receptors or XY gonadal agenesis."." The extent of surgery and resultant physiologic Further workup should include karyotyping for function will also help the patient have appropriate genetic sex. If the genetic type is 46 XX and no in- expectations of sexual function. guinal masses are evident, testicular feminization Various complications (leiomyoma 24