| Abstract|| |
A 14-year-old feminine adolescent, presented with congenital absence of right thumb, scoliosis, severe anemia, primary amenorrhea without secondary sexual characteristics, except for normally developed breasts. In the genital area, there was a pair of ill developed labia majora fused at upper end with a whirling pattern containing inside the urethral opening. The lower end of genitalia had loose skin folds containing adequate amounts of rugae with a raphe, mimicking the texture of scrotal skin. There was no vaginal orifice. Diagnostic work-up included routine hematological studies, skeletal radiography, renal ultrasonography, and renal scan to demonstrate possible association between the congenital genitourinary and skeletal anomalies. Ultrasound imaging studies confirmed that she had structures close to uterus with hematometra, but vagina and ovary were not found. Sonologically, the left kidney could not be visualized. Renal scan confirmed agenesis of the left kidney and hypoplastic, parenchymally insufficient, right kidney. Cytogenetic karyotyping revealed a 46, XX karyotyping and the presence of Barr chromatin body. Based on the clinical examination and investigations, a diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome was established with associated limb and skeletal deformities.
Keywords: Genitalia, Sex Determination, Imaging studies, Mayer Rokitansky-Kuster-Hauser syndrome
|How to cite this article:|
Pal R, Manglik A, Sinha N. A Case of Mayer-Rokitansky-Kuster-Hayser Syndrome with Absence of the Right Thumb. Saudi J Kidney Dis Transpl 2008;19:236-40
|How to cite this URL:|
Pal R, Manglik A, Sinha N. A Case of Mayer-Rokitansky-Kuster-Hayser Syndrome with Absence of the Right Thumb. Saudi J Kidney Dis Transpl [serial online] 2008 [cited 2020 Feb 17];19:236-40. Available from: http://www.sjkdt.org/text.asp?2008/19/2/236/39037
| Introduction|| |
The Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome refers to a group of associated findings that include unilateral renal agenesis or ectopia, ipsilateral mullerian defects and vaginal agenesis. Some individuals are diagnosed as having unilateral renal agenesis based on the finding of an absent kidney on ultrasonography. Approximately 15% have contralateral vesicoureteral reflux.  The incidence of MRKH syndrome is approximately 1 in 4,000 - 5,000 female births.  MRKH affects only females. Although this condition has psychologically devastating consequences, physiological defects can be surgically treated. 
| Case Report|| |
A 14-year-old adolescent, with phenotype of a female, presented with complaints of: recurrent abdominal pain with bouts of low grade fever for the last three years, episodes of burning micturition for the last two and a half years and occasional bleeding from single opening present in the genital area with severe pain. She had not attained menarche. There was not history of any other significant illnesses since her childhood.
The patient was born after an uneventful pregnancy. The delivery was at full-term performed at home with no proper ante-natal, intra-natal or post-natal care. A detailed family history revealed no significant related events. The mother had reported fetal wastage once but there was no neonatal or infant death. As a family with rustic culture in rural Bengal, the parents had never practiced any form of contraceptive method. She had two older and two younger sisters and one younger brother. None of them had any reproductive tract problems.
An informed consent was taken before detailed physical examination. A senior gynecologist was consulted for supervising the clinical examination. Examination revealed an anxious and pale girl of medium stature with adolescent feminine look. Her weight was 26 Kgs. with height of 127 cm. There was absence of right thumb since birth. [Figure - 1] There was also evident congenital scoliosis; to the left in the dorsal region and to the right in the lumbar region. [Figure - 2]. Systemic examination revealed no gross changes.
Secondary sexual character examination
There were well-developed breasts with welldeveloped areola (Tanner stage 3). No other age-specific secondary sexual features were present i.e., no adolescent change in voice, no adolescent increase in width of girth of pelvis and buttock and no axillary or pubic hair (Tanner stage 0) [Figure - 2].
External genitalia examination
On standing posture, a protruding folded mass with a whirling pattern was found overhanging the external genitalia and an apparent pair of ill developed labia majora-like structure was visible. This could be separated apart to note the lone aperture seated deeply. The external genitalia without pubic hair and infantile pelvic girth were unusual for this age in an adolescent [Figure - 2],[Figure - 3].
On lithotomy posture, there was absence of vaginal orifice. The external urethral meatus was almost covered by the fold of skin. Rugosity of this fold with a raphe with increased pigmentation confused clinical diagnosis of the perineal area. Moreover, loose skin was found in the region between mons pubis and anal opening unlike fatty smooth feelings of labia majora or minora.
No hard structure, comparable to testes or ovotestes, was found in the bottom of labioscrotal folds.
Rectal examination did not reveal the cervix and uterus. The anal aperture was clinically normal.
Routine hematological studies revealed hemoglobin level of 4.2 gm/dl and serum creatinine level of 0.7 micromol/L. Cytogenetic karyotyping revealed a 46, XX karyotyping and the presence of Barr chromatin body. Imaging Studies included skeletal radiography, renal ultrasonography, and renal scan. Radiologically, congenital absence of right thumb and scoliosis to the left in the dorsal region and to the right in the lumbar region was confirmed.
Abdominal ultrasound to identify miillerian structures showed:
a) relatively smaller sized right kidney with echogenic cortical parenchyma, consistent with renal parenchymal insufficiency,
b) sonographically non-visualized left kidney and
c) normal sized uterus with evidence of collection inside (hematometra).
Renogram with 99 mTc-DTPA, in a dose of 4 mCi was performed to exclude the possibility of an ectopic or pelvic kidney. The report revealed findings suggestive of: a) parenchymal insufficiency in right kidney and b) non-visualized left kidney. The report confirmed agenesis of left kidney and hypoplastic, parenchymally insufficient, right kidney.
| Discussion|| |
Mullerian agenesis is second in frequency only to gonadal dys genesis as a cause of primary amenorrhea. Women with the syndrome have 46 XX karyotype, female secondary sexual characteristics and normal ovarian function, including cyclic ovulation, but have absence or hypoplasia of vagina. One third of women with this syndrome have abnormalities of urogenital tract and one tenth have skeletal anomalies, usually involving the spine.  The uterovaginal canal develops embryologically at a time when other mesodermal structures are forming, which is thought to be the reason for the wide assortment of associated abnormalities which include cardiac and auditory defects in addition to the more commonly seen renal and vertebral problems. While MRKH syndrome is associated with proximal vaginal absence, the hymenal fringe and distal vaginal area are usually spared since they are embryologically derived from the urogenital sinus. Mullerian aplasia has been associated with a maternal deficiency of galactose I-phosphate uridyl-transferase. 
Based on the clinical examination and investigations, a diagnosis of Mayer-RokitanskyKuster-Hauser syndrome was established in our patient, with associated limb and skeletal deformities. The patient probably had mild to moderate renal insufficiency in the remaining kidney. She had recurrent abdominal pain possibly due to hematometra.
Ability to diagnose this syndrome has advanced rapidly in recent years and techniques of surgical genital reconstruction are routinely practiced. The best approach to managing these cases is to provide parents with as much information using a multidisciplinary approach which should include a neonatologist, a geneticist, an endocrinologist, a surgeon, a counselor, a social activist and a psychologist.  It is extremely important that the parents appreciate that their child does have a definite sexual identity and is not going to remain somewhere between the two sexes. 
Unfortunately, in a third world country like India, less than half of the deliveries is attended to by a trained health professional  even in this new millennium. Thus, routine check up for congenital anomalies is not possible and these cases are diagnosed after failure to attain menarche or failure to conceive after marriage. These unfortunate critical elements can be avoided by improving perinatal, pediatric as well as school health services.
The techniques of genital reconstruction had been mastered, although the understanding of the psychological and social implications is poor. Researchers in this field have been contributing a lot in recent years. ,,, In our patient, vaginoplasty followed by marriage as well as child adoption was suggested by us. Moreover, the cause of her anemia was not conclusively determined. Since creatinine clearance was not checked, the true extent of her renal failure could not be determined nor was any evidence presented, that proved whether she had any type of vesicoureteral reflux. These require cooperation and effort from the patient and caregivers, which the family declined.
In this type of publication, there is little scope to pursue any discussion about the cultural, linguistic, financial or psychological issues that ultimately led the family to decline further evaluation and treatment for this girl. Such a study of the realistic barriers to diagnosis and treatment could have made a great contribution to the medical community, especially in Third World countries.
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Department of Community Medicine, Sikkim-Manipal Institute of Medical Sciences, 5th Mile Tadong, Gangtok 737 102, Sikkim
[Figure - 1], [Figure - 2], [Figure - 3]