Mayer Rokitansky Kuster Hauser (MRKH) syndrome with absent thumbs and big toes.
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare developmental failure of Mllerian ducts. Principle clinical features of MRKH syndrome are primary amenorrhoea associated with congenital absence of vagina, uterine anomalies, normal ovaries, 46 XX karyotype with normal female secondary sexual characteristics and frequent association with renal, skeletal, and other congenital anomalies.
A case of a 3-year-old child with congenitally absent thumbs and big toes is reported herein; she was brought in with complaints of urinary incontinence. Radiological investigation (ultrasound and magnetic resonance imaging (MRI) scan) revealed absent uterus and vagina while both ovaries were normal. Intravenous urography (IVU) study showed bifid pelvicalyceal systems bilaterally. Karyotyping revealed a 46 XX female phenotype. Laparoscopy confirmed normal ovaries bilaterally and small unfused uterine buds lying beside both ovaries on each side of pelvis. Early diagnosis of MRKH syndrome is essential for timely planning of vaginal and (if possible) uterine reconstructive surgeries.
Keywords: Mllerian agenesis, Vaginal atresia, Uterine agenesis, Mayer-Rokitansky-Kuster-Hauser syndrome.
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare developmental failure of Mllerian ducts, comprising of congenital absence of vagina (described by Mayer in 18291) with uterine anomalies (described by Rokitansky in 18382 and Kuster in 19103); ovaries are usually normal in these patients. The prevalence has been reported at 1 in 4000 to 1 in 5000 live births,4,5 but considering the women presenting with primary amenorrhoea, the disorder is fairly common, constituting 15% of patients with primary amenorrhoea.5,6
A 3-year-old female child was brought in with complaints of total urinary incontinence. Her general physical examination showed absent thumbs and big toes bilaterally (Figure-1) Rest of the physical examination was unremarkable. Perineal examination showed normal clitoris, and normal labia majora and minora. Wide urethral opening with urinary leakage in the introitus was noted. Vaginal opening was not seen. Normally-situated external anal opening was identified.
Complete blood picture and renal function tests were carried out and were found to be within normal limits. During ultrasound examination of pelvis, the uterus was not identified while normal ovaries were noted bilaterally. Ultrasound examination of abdomen depicted normal size, shape and echogenicity of both kidneys. Rest of the abdominal ultrasound scan also appeared unremarkable.
For confirmation of the uterine absence, a magnetic resonance imaging (MRI) examination was carried out (Figures-2, 3a, 3b) which confirmed the absence of the uterus and the vagina. Both ovaries had a normal appearance (isointense on TI-weighted images and hyperintense on T2-weighted images). The right ovary was normally placed and contained two follicles as well, while the left ovary was close to the deep inguinal ring and appeared solid (without follicles).
Intravenous urography (IVU) revealed bilateral bifid pelvicalyceal system. Karyotyping showed normal 46, XX female phenotype. Laparoscopic findings (Figure-4A, 4B and 4C) revealed about 1.2 x 0.5 cm sized right ovary with the fallopian tube and a small uterine bud on the right side of the pelvis. Presence of follicles in the right ovary was also confirmed. About 1.5 x 0.6 cm sized left ovary with fallopian tube and an unfused uterine bud were identified near deep inguinal ring on the left side. The vagina was absent.
Absence of vagina and uterus (genital abnormalities) in the presence of normal ovaries and normal female karyotype with renal and skeletal anomalies has been recognized as Mayer-Rokitansky-Kuster- Hauser syndrome (MRKH syndrome).
Principle clinical features of the MRKH Syndrome as described by James E. Griffin and et al4 include:
Primary amenorrhoea associated with congenital absence of vagina;
46 XX karyotype;
Uterus that varies from anatomically complete (rudimentary bicornuate) to complete absence;
Normal ovarian function and normal ovulation;
Normal female secondary sexual characters like breast development, body proportion and body hair;
And frequent association of renal, skeletal and other congenital anomalies. Abnormalities other than renal and skeletal anomalies have also been reported to occur in MRKH syndrome, including inguinal and femoral hernias, congenital heart diseases, cleft palate, situs inversus, bowel malrotation and anorectal malformation.4,5
A spectrum of Mllerian duct defects occurs in patients with MRKH syndrome. Ovaries and fallopian tubes are usually normal in these patients. Anomalies include vaginal agenesis or hypoplasia, accompanied by variable anomalies of uterus, urinary tract and the skeletal system. In 90% of the cases, complete vaginal agenesis is associated with uterine agenesis, while in 10% of the affected women, isolated vaginal agenesis may occur with an obstructed or non-obstructed rudimentary uterus.4,5
Strbbe et al have classified typical or atypical forms of this syndrome as type A and type B.7 Patients with type A have symmetric uterine muscular buds and normal fallopian tubes, while patients with type B have asymmetric uterine muscular buds, abnormally developed fallopian tubes, renal and skeletal abnormalities.7 Uterine anomalies that can occur include unfused separate uterine buds, unicornuate uterus with communicating or non-communicating horn (which results in haematometra in the non-communicated horn), uterus didelphys, bicornuate uterus and septate uterus.
Association between congenital absence of vagina and developmental abnormalities of urogenital system was recognised very early, and approximately one-third of the patients have renal anomalies.
Among these patients, 74% had either unilateral renal agenesis or ectopia of one or both kidneys, 5% had horseshoe kidneys, 13% had abnormalities of the collecting system, 5% had malfunctioning kidneys of uncertain cause, and renal malrotation.4,9 Some affected patients may have lethal manifestation of bilateral renal agenesis.
Skeletal abnormalities are recognised findings in MRKH syndrome.2,3 The incidence is about 12%, among which 68% of the patients have spinal anomalies, 14% have limb anomalies and 10% have rib deformities.
Common spinal abnormalities that occur in this syndrome include scoliosis, spina bifida, transitional vertebral defects and vertebral segmentation defects including Klippel-Feil deformity, hemivertebra, butterfly vertebra and others.4,10 Limb abnormalities include malformed arm or leg in 9% of the patients, syndactyly in 4%,4 and absence of a thumb.
Embryologically, the fundamental abnormality in MRKH syndrome appears to be arising from the mesonephric kidney system, the development of which is interrupted during the 6th or 7th week of gestation. Wolffian ducts develop from the mesonephric kidney system (mesoderm), which leads to the development of uterus and upper vagina. Metanephric duct also develops from the mesonephric urinary bladder (in part).
Like the mesonephros, the skeletal system is also derived from the mesoderm, at approximately the same stage of development and at the same somite levels which are involved for the embryonic development of urogenital tract, which explains the skeletal abnormalities.
Another hypothesis that has been proposed by Schmid-Tannwald and Hauser11 to explain the association between genital and renal anomalies in this syndrome is that the faulty gonadal differentiation due to production of Mllerian inhibiting factor induces the regression of Mllerian ducts.
Early diagnosis of MRKH syndrome is necessary for planning timely reconstructive vaginal, and if possible uterine, surgery. Awareness of the patient and related family members about the anomaly is essential so that they are relieved of the extreme psychological and mental stress that can arise from the situation when it is discovered while treating infertility after marriage. Ultrasound is the modality that leads to the diagnosis, but MRI is usually needed for confirmation of the uterovaginal anomalies and ovarian evaluation.
1. Mayer. Uber Verdoppelungen des uterus and ihre Arten, nebst Bemerkungen uber Hasenscharte und Wolfsrachen. J Chir Auger 1829; 13: 525-64.
2. Rokitansky K. Uber die sogenannten Verdoppelungen des uterus. Med Jb Obst Staat 1838; 26: 39- 77.
3. Kuster H. Uterus bipartitus solidus rudimentarius cum vagina solida. Z Geb Gyn 1910; 67: 692-718.
4. Griffin JE, Edwards C, Madden JD, Harrod MJ, Wilson JD. Congenital absence of the vagina. The Mayer Rokitansky Kuster Hauser Syndrome. Ann Intern Med 1976; 85: 224-36.
5. Sharma S, Aggarwal N, Kumar S, Negi A, Azad JR, Sood S. Atypical Mayer Rokitansky Kuster Hauser Syndrome with scoliosis, renal and anorectal malformation. Case report. Ind J Radiol Imag 2006; 16: 809-12.
6. Master Hunter T, Heiman D L. Amenorrhoea; Evaluation and treatment. Am Fm Physician 2006; 73: 1374.
7. Strubble EH, Willemsen WN, Lemmens JA, Thijn CJ, Rolland R. Mayer Rokitansky Kuster Hauser Syndrome: Distinction between two forms based on excretory urographic, sonographic and laparoscopic findings. Am J Roentgenol 1993; 160: 331-4.
8. Trivedi AV, Vaishya KB, Dodiya CK, Gandhi SP, Pandya AJ. Two unique cases of atypical mullerian duct development. Ind J Radiol Imag 2006; 16: 887-9.
9. Vitko RJ, Cass AS, Winter RB. Anomalies of the genitourinary tract associated with congenital scoliosis and congenital kyphosis. J Urol 1972; 108: 653.
10. Turenen A, Unnerus CE. Spinal changes in patients with congenital aplasia of vagina. Acta Obstet Gynecol Scand 1967; 46: 99-106.
11. Pal R, Manglik A, Sinha N. A case of Mayer Rokitansky Kuster Hauser Syndrome with absence of right thumb. Saudi J Kidney Dis Transpl 2008; 19: 236-40.
Department of Radiology, Singh Institute of Urology and Transplantation, Karachi.
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|Publication:||Journal of Pakistan Medical Association|
|Date:||Jan 31, 2014|
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