most commonly , they present with genital ambiguity . however , the phenotype may vary from normal female to normal male appearance . here
, we are describing a case of 46 xy ovotesticular dsd who presented as primary amenorrhea .
the index case , a 21-year - old female came to gynecology opd with complaint of primary amenorrhea ( pubarche : 15 yrs and thelarche : 18 yrs ) .
general physical examination was within normal limits ( no features suggestive of hypothyroidism , cushing 's syndrome , or acromegaly ) .
external genitalia examination revealed clitoromegaly ( 5 cm ) , separate vagina , and urethra openings .
she was born out of non - consanguineous marriage and ante - natal history was not contributory .
there was no similar complaint in the family . in view of primary amenorrhea with clitoromegaly ,
serum total testosterone , lh , fsh , 17-oh progesterone , dheas , thyroid profile , and prolactin were measured .
all of the above hormone investigations were normal except raised serum total testosterone [ 4.78 ng / ml ( 0.15 to 0.81 ) ] , lh [ 20 miu / ml ( 0.80 to 7.6 ) ] , and fsh [ 30 miu / ml ( 0.7 to 11.1 ) ] . ultrasound pelvis revealed hypoplastic uterus ( 4.8 cm  1.65 cm  0.847 cm ) and bilateral ill - defined gonad like structures high up in pelvis . at this point of time ,
mosaic turner 's syndrome ( 45 x/46 xy ) was kept as the first possibility .
but the karyotype revealed 46 xy , so the clinical diagnosis was changed to partial gonadal dysgenesis .
anthropometry revealed : height : 168 cm , weight : 75 kg , bmi : 26.60 kg/ m , upper segment : 74 cm , lower segment : 94 cm , and arm span : 180 cm .
hormone investigations revealed a decrease in serum total testosterone from 4.78 to 0.93 ng/ ml and a further increase in gonadotrophins ( lh : 31.4 miu / ml and fsh : 53.3 miu/ ml ) .
intra - operatively , vaginal length was 10 cm , cervix and uterus were hypoplastic with b / l normal fallopian tubes in situ , left side showed tubular gonad and right side had spherical gonad .
histopathology of left and right gonad revealed ovarian follicle with flattened cuboidal lining epithelium [ figure 1 ] and hyalinized seminiferous tubules with leydig cells [ figure 2 ] , respectively .
, she was started on estrogen replacement and the plan was to add progesterone after breakthrough bleeding .
left gonad showing ovarian follicles ( h and e , 20 ) right gonad showing seminiferous tubule ( h and e , 40 )
the disorders of sex development ( dsd ) is an uncommon disorder with an incidence of 1:4500 to 1:5000 live births .
true hermaphrodite ( ovotesticular dsd ) is responsible for 4% to 10% of cases of dsd , but this is the most common type of intersex disorder among south african blacks .
the frequency of different karyotype found among true hermaphrodite are 46 xx ( 60% ) , 46 xx/46 xy ( 30% ) , and 46 xy ( < 10% ) . in a study by bhansali et al . from a tertiary care center in india ,
only one case of 46 xy ovotesticular dsd was detected among seven true hermaphrodite patients over 10 years .
patients with ovotesticular dsd are classified according to the type and location of the gonads .
lateral cases ( 20% ) have a testis on one side and an ovary on the other . bilateral cases ( 30% ) have testicular and ovarian tissue present bilaterally , usually as ovotestis .
unilateral cases ( 50% ) have an ovotestis present on one side and an ovary or testis on the other .
the ovary is more frequently found on the left side , whereas the testis is found more often on the right like in our patient ( lateral variety of ovotesticular dsd ) .
a majority of true hermaphrodite patients present with genital ambiguity with or without palpable gonads and most of them are reared as males .
however , the appearance of external genitalia varies from normal female with mild clitoromegaly to normal male .
this feature is suggestive of more severe dysgenesis of gonad and is also supported by the presence of mullerian structures adjacent to testicular tissue ( rt .
an unusual feature of this patient was the absence of hirsutism in spite of increased serum testosterone level and clitoromegaly .
this can be explained by the differential sensitivity of pilo - sebaceous units ( psus ) to serum androgen in different patients .
another interesting finding in our patient was the progressive decrease in functional testicular tissue over time ( a decrease in serum testosterone from 4.78 to 0.93 ng / ml with mild regression of clitoromegaly over 3 years ) .
similar reports have been described in the literature . because of this phenomenon , the gonads which were initially visible in ultrasound could not be localized in mri after 3 years .
the important issue related to intra - abdominal testicular tissue is the risk of development of gonadal tumor , e.g. gonadoblastoma .
the risk is more in case of gonadal dysgenetic syndromes compared to true hermaphrodite ( 15% to 35% vs. 02% to 04% ) .
as the true hermaphrodite is itself a rare disease and most of the cases have 46 xx karyotype , the exact risk of development of gonadal tumor among 46 xy ovotesticular dsd ( e.g. the index case ) is not known . in most of the patients with true hermaphrodite ,
however , it is important to retain at least the ovarian tissue in case of true hermaphrodite patients with uterus as few cases with successful pregnancy are there in the literature . in summary
, true hermaphrodite should be kept as one of the differential diagnosis of primary amenorrhea particularly in the presence of hyperandrogenism .
not all patients develop cutaneous manifestations of androgen excess , e.g. hirsutism because of differential sensitivity to androgens .
detailed physical examination and step - wise investigations including karyotype will pick up these cases .
various factors including the possible diagnosis ( gonadal dysgenesis vs. true hermaphrodite ) , presence of y - chromosome , sex of rearing and the scope of fertility should be taken into consideration before doing gonadectomy .
 true hermaphrodite is one of the rare variety of disorders of sex development . 
 most of them are genotypically females ( 46 xx ) and present as under virilized males . features of hyperandrogenism are present in those reared as females . 
 the commonest histological variety of gonad found in them is ovotestis , which is at risk for malignancy . 
 we report a girl with 46 xy true hermaphrodite without ovotestis presenting as primary amenorrhea and isolated clitoromegaly in the absence of any other features of virilization . 
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