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 . 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 . 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 .