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 and dys- can be ruled out except for the unlikely possibility menorrhea25) have occurred in the remnant tissue. of harlequin mosaic or true hermaphrodite (error Emphasis should be placed on careful follow-up or incomplete karyotype sampling). Basal body gynecologic care on a long-term basis. temperature charting with normal gonadotropin levels would then confirm miillerian duct agenesis. The initial use of laparoscopy as a useful tool is 1. Bryan, A.L., Nigro., J.A., and Counseller, V.S.: One hundred cases of advocated by Casthely3 to evaluate remnant tis- congenital absence of vagina. Surg Gynecol Obstet 88:79-86, 1949 2. Ylikorkala, 0., and Viinikka, L.: Pituitary and ovarian function in sue. However, laparoscopy is usually limited to in- women with congenitally absent uterus. Obstet Gynecol 53:137-9, Jan 79 stances in which clinical signs and symptoms such 3. Chawla, S., Bery, K., and Indra, K.J.: Abnormalities of urinary tract as cryptomenorrhea or palpable uterine tissue are and skeleton associated with congenital absence of vagina. Br Med J 1:1398-1400, 4 Jun 66 present. Such conditions could modify the defini- 4. Fore, S.R., et al.: Urologic and genital anomalies in patients with tive surgical procedure. Because of the common congenital absence of the vagina. Obstet Gynecol 46:410-6, Oct 75 association of urologic anomalies, the utilization 5. Gupta, U., Migal, V.K., and Hupta, A.K.: Single left pelvic kidney associated with congenital absence of vagina and uterus. J Indian Med of intravenous pyelography is indicated preoper- Assoc 52:478-9, 16 May 69 atively. 6. Turunen, A., and Unnerus, C.E.: Spinal changes in patients with

Miillerian duct agenesis 348/81 congenital aplasia of the vagina. Acta Obstet Gynecol Scand 46:99-106, Further results of treatment and a new technique. Surg Clin North Am 1967 37:1107-18, Aug 57 7. Azoury, R.S., and Jones, H.W., Jr.: Cytogenetic findings in patients 20. Farber, M., and Mitchell, G.W.: Surgery for congenital absence of the with congenital absence of the vagina. Am J Obstet Gynecol 94:178-80, 15 vagina. Obstet Gynecol 51:364-7, Mar 78 Jan 66 21. Frank, R.T.: The formation of an artificial vagina without operation. 8. Grover, S., Solanki, B.R., and Banerjee, M.: A clinicopathologic study Am J Obstet Gynecol 35:1053-5, 1938 of miillerian duct aplasia with special reference to cytogenetic studies. 22. Williams, E.A.: Congenital absence of the vagina: A simple operation Am J Obstet Gynecol 107:133-8, 1 May 70 for its relief. J Obstet Gynecol Br Commonw 71:511-6, Aug 64 9. Jones, H.W., Jr., and Mermut, S.: Familial occurrence of congenital 23. David, A., et al.: Congenital absence of the vagina. Clinical and absence of the vagina. Am J Obstet Gynecol 114:1100-1, 15 Dec 72 psychologic aspects. Obstet Gynecol 46:407-9, Oct 75 10. Lischke, J.H., Curtis, C.H., and Lamb, E.J.: Discordance of vaginal 24. Farber, M., Stein, A., and Adashi, E.: Rokitansky-Kuster-Hauser agenesis in monozygotic twins. Obstet Gynecol 41:920-4, Jun 73 syndrome and leiomyoma uteri. Obstet Gynecol 51:70S-3S (Suppl.) Jan 11. Garcia, J., and Jones, H.W., Jr.: The split thickness graft technic for 78 vaginal agenesis. Obstet Gynecol 49:328-32, Mar 77 25. McRae, M.A., and Kim, M.H.: Dysmenorrhea in uterus unicornis 12. Sarto, G.: Primary amenorrhea. In Gynecology and obstetrics, edited with rudimentary uterine cavity. Obstet Gynecol 53:134-7 (Suppl.) Jan by J.J. Sciarra. Rev. ed. Harper Row, Hagerstown, Maryland, 1977 79 13. Casthely, S., Maheswaren, C., and Levy, J.: Laparoscopy: An im- portant tool in the diagnosis of Rokitansky-Kuster-Hauser syndrome. Am J Obstet Gynecol 119:571-2, 15 Jun 74 14. Pratt, J.H., and Smith, G.R.: Vaginal reconstruction with a sigmoid Accepted for publication in August 1980. Updating, as neces- loop. Am J Obstet Gynecol 96:31-40, 1 Sep 66 sary, has been done by the authors. 15. Wharton, L.R.: A simple method of constructing a vagina. Ann Surg This paper was submitted in the 1979-80 Philips-Mitros 107:842-54, 1938 writing award program through the American College of 16. Mclndoe, A.: The treatment of congenital absence and obliterative Osteopathic Obstetricians and Gynecologists. conditions of the vagina. Br J Plast Surg 2:254-67, Jan 50 17. Jones, H.W., Jr., and Wheeless, C.R.: Salvage of the reproductive Dr. Guthrie is a resident in the Department of Obstetrics and potential of women with anomalous development of the miillerian ducts: Gynecology, Grand Rapids Osteopathic Hospital, of which 1868-1968-2068. Am J Obstet Gynecol 104:348-64, 1 Jun 69 Dr. Martin is the resident trainer. Dr. Buggeln is chairman Thompson, J.D., Wharton, L.R., and Telinde, R.W.: Congenital ab- 18. of the Department of Obstetrics and Gynecology. sence of the vagina. An analysis of thirty-two cases corrected by the Mclndoe operation. Am J Obstet Gynecol 74:397-404, Aug 57 Dr. Guthrie, 1919 Boston Street, S.E., Grand Rapids, Michigan 19. Counseller, V.S., and Flor, F.S.: Congenital absence of the vagina: 49506.

347/82 Jan. 1981/Journal of AOA/vol. 80/no. 5