the mayer - rokitansky - kster - hauser ( mrkh ) syndrome or mullerian duct agenesis is characterized by congenital aplasia of the uterus and the upper part ( 2/3 ) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46 , xx karyotype . till date
the presence of alopecia with mrkh syndrome is a mere coincidence or an associated finding is a subject of research and may require further evidence .
a 17-year - old girl presented with hair loss from the scalp for 1 year .
the loss of hair begins at the occipital area of the scalp , and it progressed along the lateral margins of the scalp in a band like fashion clinically suggestive of ophiasis type of alopecia areata .
detailed gynecological examination revealed normal secondary sexual characters with well - developed external genitalia and hypoplastic vagina [ figure 1b ] .
the histopathology of the scalp revealed lymphocytic infiltration around the lower third of the hair follicle , a finding suggestive of alopecia areata . to rule out the cause of amenorrhea , ultrasonograhy of abdomen and pelvis
was done which revealed the absence of uterus and right kidney with normal ovaries [ figure 2a and b ] .
hormone levels ( follicle - stimulating hormone , luteinizing hormone , estradiol , testosterone , and thyroid function test ) were within normal limits .
clinical findings shows ( a ) ophiasis type of alopecia areata , ( b ) well - developed external genitalia and hypoplastic vagina ultrasonography of abdomen and pelvis shows ( a ) absence of uterus , ( b ) absent right kidney
the detailed review of four case reports of mrkh syndrome with alopecia in world 's literature has been given in table 1 .
first , three reports were from the same geographical region of middle east ( jordan , lebanon , and turkey , respectively ) .
hypothesized that the founder mutation in middle east population might be responsible for the condition to be restricted to that geographical region .
however , the fourth case report from south asia ( pakistan ) questioned the hypothesis of founder mutation leading to mrkh syndrome restricted to that geographical region .
we are reporting the fifth case report which is the second case report from south asia and first among indian population .
our case report is another evidence to suggest that mrkh syndrome with alopecia is not restricted to middle east population .
review of literature of mrkh syndrome with alopecia in all previously reported four case reports , there was a history of parental consanguinity and siblings were also affected with mrkh syndrome and alopecia . in our case , there was no history of parental consanguinity and siblings were normal .
there are many case reports and syndromes of hypogonadism with alopecia . in all the previous case reports of mrkh syndrome with alopecia , hypergonadotropic hypogonadism was noted .
this case is the first report of mrkh syndrome with alopecia with normal gonadal function .
mrkh syndrome may have associated abnormalities such as renal agenesis , skeletal abnormalities , hearing loss , or cardiac defects . in our case , the right renal agenesis was the associated finding of mrkh syndrome with alopecia which is not observed in all the previous four case reports under review . in a female patient of alopecia areata , history of primary
this syndrome is caused by embryologic growth failure of the mullerian duct with resultant agenesis or underdevelopment of the vagina , uterus or the both .
all the reported cases of mrkh with alopecia including our case had alopecia areata which is an autoimmune disease .
there seems to be no direct correlation between these entities as one is due to a genetic defect , and other is an autoimmune disease .
hence , the presence of alopecia in the case of mrkh syndrome is a mere coincidence , or an associated finding of the syndrome is a matter of further study .
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the patients understand that their names and initials will not be published and due efforts will be made to conceal their identity , but anonymity can not be guaranteed .
the authors certify that they have obtained all appropriate patient consent forms . in the form the patient(s )
has / have given his / her / their consent for his / her / their images and other clinical information to be reported in the journal .
the patients understand that their names and initials will not be published and due efforts will be made to conceal their identity , but anonymity can not be guaranteed .
 a 17-year - old girl presented with alopecia involving lateral margins of the scalp with primary amenorrhea . 
 there was no history of parental consanguinity , and no other siblings were having similar complaints . 
 her secondary sexual characters were well developed with hypoplastic vagina . 
 histopathological findings from scalp biopsy showed features of alopecia areata . 
 ultrasonography of abdomen and pelvis revealed the absence of uterus and the right kidney . 
 follicle - stimulating hormone , luteinizing hormone , estradiol , testosterone , and thyroid function test was within normal limits . 
 the patient had normal 46 , xx karyotype . till date , only four case reports of mayer - rokitansky - kster - hauser ( mrkh ) syndrome with alopecia has been reported . 
 we are reporting the first case of mrkh syndrome with alopecia with normal gonadal function in world 's literature . 
INTRODUCTION
CASE REPORT
DISCUSSION
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