ovotesticular disorder of sex development ( ot - dsd ) is a rare disorder of sexual 
 differentiation characterized by the presence of testicular tissue with distinct 
 seminiferous tubules and ovarian tissue with mature ovarian follicles in the same gonad 
 ( ovotestis ) or separately in a single individual ( 1 , 
 2 ) . ot - dsd it constitutes between 3 and 10% of the 
 total dsd and presents significant diagnostic and management challenges ( 3 , 4 ) . typically , 
 both mullerian and wolffian duct derivatives are seen , and most affected individuals 
 commonly present with ambiguous external genitalia as neonates or infants . however , the 
 phenotype of the external genitalia may range from normal male to normal female depending on 
 the degree of testicular tissue present . the ovotestis is usually the most common gonad in 
 individuals with ot - dsd , and such gonads are known to be at an increased risk of developing 
 germ cell tumors ( 5 ) . more than five hundred cases of ot - dsd including familial cases have been reported in 
 medical literature ( 3 , 6 , 7 ) . epidemiologically , the geographical 
 distribution of ot - dsd shows a higher prevalence in the african continent , especially among 
 south african blacks , with the number of published cases being 17 per 100 million people , 
 followed by europe at 15.3 . age and mode of presentation is often variable and 
 usually comprises hypospadias , unilateral or bilateral cryptorchidism , inguinal hernia , 
 urogenital sinus , gynecomastia at pubertal age or lower abdominal mass in adulthood ( 4 ) . internally , the presence of an ovotestis is the most 
 common finding followed by ovaries ( 4 , 9 ) . the chromosomal findings in ot - dsd were first reported in 1959 by hungerford , who 
 demonstrated a 46,xx chromosomal complement in peripheral blood lymphocytes of an individual 
 with this disorder ( 10 ) . ot - dsd is a genetically 
 heterogeneous condition with the predominant karyotype being 46,xx , while 46,xx/46,xy 
 chimerism , 46,xy karyotype and x - y translocation are less frequent ( 4 ) . the objective of this paper is to describe the diverse clinical , 
 cytogenetic and histopathological features of five patients diagnosed with ot - dsd in sri 
 lanka . this is a report of the clinical , cytogenetic and histopathological data of patients with 
 ot - dsd who were referred to the human genetics unit for cytogenetic evaluation between 2005 
 and 2011 . this facility serves as the main referral center for cytogenetic testing in sri 
 lanka , and the majority of children with dsd in the country undergo karyotype testing at 
 this center . the diagnosis of ot - dsd had been 
 confirmed by histopathological examination of the gonads , which were biopsied either 
 laparoscopically or at exploratory laparotomy . five milliliters of peripheral blood was 
 obtained from each patient , and chromosomal analysis was performed on routinely cultured 
 lymphocytes after gtg - banding . karyotyping was done according to guidelines of the 
 international system for human cytogenetic nomenclature ( iscn , 2005 ) . at least 30 
 well - spread and well - banded metaphases were examined in each patient by an experienced 
 cytogeneticist . the age , sex of 
 rearing , mode of presentation , status of the external and internal genitalia and karyotypes 
 of the patients are summarized in table 
 1 . their ages ranged from 2 mo to 47 yr , and all were reared as males . in four 
 of the patients ( cases 1 , 3 , 4 and 5 ) , two 
 patients ( cases 1 and 3 ) had perineal hypospadias with bilateral cryptorchidism , while the 
 other two patients ( cases 4 and 5 ) , who were siblings , both had male external genitalia with 
 a short , blind - ending vagina and bilateral inguinal lumps . case 2 was reared as a male but 
 started feminizing and developed female secondary sexual characteristics at puberty with 
 gradual atrophy of both testes . case 1 underwent surgical correction for perineal 
 hypospadias during early childhood but remained undiagnosed until an exploratory laparotomy 
 performed for an intra - abdominal lump led to the diagnosis of ot - dsd at the age of 47 yr . in 
 addition to the lower abdominal mass , this patient was observed to have gynecomastia . two patients had 
 bilateral ovotestis : one had an ovotestis on one side and an ovary on the other side , the 
 other had an ovotestis on one side and a testis on the other side ; the remaining patient had 
 an ovary and testis separately on either side . four patients ( cases 1 , 2 , 4 and 5 ) had a 
 46,xy chromosome complement , while 46,xx/46,xy chimerism was observed in the remaining 
 patient ( case 3 ) . there were no cases of 46,xx karyotype . table 1  profiles of the five patients with ovotesticular disorder of sex 
 developmentcaseagesex of rearingindication for investigationexternal genitaliainternal genitalia / gonadskaryotype147 yrmaleambiguous genitalia at birth / abdominal 
 mass in adulthoodperineal hypospadias , bilateral 
 cryptorchidismuterus with tubes , left ovotestis and 
 right testis 46,xy223 yrmalefemale secondary sexual characteristics at 
 puberty with gynecomastiamale external genitalia with bilateral 
 atrophic testes uterus with tubes and bilateral streaky 
 ovaries and atrophic testes46,xy32 momaleambiguous genitalia / inguinal lumpperineal hypospadias , bilateral 
 cryptorchidismuterus with tubes , left ovary and right 
 ovotestis46,xx/ 46,xy49 momaleambiguous genitalia / bilateral inguinal 
 lumpsmale external genitalia with blind - ending 
 vaginauterus with tubes and bilateral 
 ovotestis46,xy55 yrmaleambiguous genitalia / bilateral inguinal 
 lumps male external genitalia with blind - ending 
 vaginauterus with tubes and bilateral 
 ovotestis46,xy ot - dsd is a rare disorder of sexual differentiation that is phenotypically and genetically 
 heterogeneous with wide - ranging manifestations . the presence of well - differentiated ovarian 
 and testicular tissue in the same individual , whether as a single tissue - type gonad or an 
 ovotestis , is the hallmark of this condition ( 9 ) . most 
 patients with ot - dsd have ambiguous genitalia and are often diagnosed within the first few 
 months to years of life ( 1 , 4 , 9 ) . in addition to ambiguous 
 genitalia , patients may present with inguinal hernias , gynecomastia during adolescence or 
 lower abdominal mass in adulthood ( 4 , 11 ) . four out of 5 patients in this series had ambiguous genitalia 
 diagnosed in the first few months to years of life , and all were reared as phenotypic males . inguinal hernias and gynecomastia were also present in some patients . a small number of 
 ot - dsd cases are incidentally picked up during laparotomy for unrelated causes . one of the 
 patients in this series had a similar presentation ; he presented with a lower abdominal mass 
 in the fourth decade that was later discovered to be an 18-wk - size uterus at laparotomy . a 
 similar case of ot - dsd in a 42 yr old was reported in north india ( 4 ) . in ot - dsd , the degree of virilization of the external genitalia 
 depends on the capacity of the testicular tissue to secrete testosterone . previous studies 
 indicate that although approximately 70% of ot - dsd patients are raised as males , less than 
 10% have normal male external genitalia ( 1 ) . it is 
 generally believed that the leydig cell function of the dysgenetic testis is inadequate for 
 normal virilization ( 4 ) , and this is exemplified in 
 this series by case 2 , who had bilateral atrophic testes and started feminizing at puberty . previous reports have also indicated that testicular tissue in ot - dsd patients becomes 
 dysgenetic and that germ cells begin to disappear with increasing age ( 12 ) . the patients in this study had internal genital organs ranging from streaky ovaries and a 
 uterus to atrophic testes , but the common presenting gonad was the ovotestis . it is known 
 that gonadal tissue may be located at any level along the route of embryonic testicular 
 descent and is frequently associated with an inguinal hernia . a sub - classification of ot - dsd 
 based on the type and location of the gonads has been described ( 13 ) . according to this classification , ot - dsd is considered to be lateral 
 if a testis is present on one side and an ovary is present on the other side ( case 2 ) , 
 unilateral if an ovotestis is present on one side and a testis or ovary is present on the 
 other side ( cases 1 and 3 ) and bilateral if an ovotestis is present on both sides ( cases 4 
 and 5 ) . ( 9 ) reported 
 that the ovotestis was the most frequent gonad , accounting for 59% in their series of 16 
 patients with ot - dsd , and krob et al . ( 3 ) also reported that an ovotestis was found in 44.4% of 568 gonads examined . the 
 same observation is reflected in this series , in which 4 out of 5 cases ( 1 , 3 , 4 and 5 ) had an 
 ovotestis and 2 of the patients , who were siblings , had bilateral ot - dsd . with regard to the 
 frequency of gonadal distribution , it is reported that the most common form is ovotestis 
 plus ovary followed by bilateral ovotestis and ovary on one side and testis on the other 
 side , representing 34% , 29% and 25% of cases , respectively ( 8) . previous studies have reported that the risk of germ cell tumors , especially 
 dysgerminomas , in patients with ot - dsd ranges from 4% among those with the 46,xx karyotype 
 to up to 10% in those with 46,xy and 46,xx / xy chimerism ( 4 , 5 ) . analysis of the chromosomal distribution of ot - dsd shows that about 5065% cases have a 
 46,xx chromosomal constitution followed by 46,xx/46,xy chimerism , while less than 10% have a 
 46,xy karyotype ( 1 , 8 , 9 ) . the 46,xy karyotype is believed to be 
 extremely rare and equally distributed throughout asia , europe and north america ( 3 ) . in contrast to published reports ( 3 , 4 , 8 , 9 , 14 ) , the predominant karyotype was 46,xy in 80% of the 
 patients in this series . there is no apparent reason for 46,xy being the most common 
 karyotype in this study other than the small number of patients studied , with possible 
 over - representation of the 46,xy karyotype in this study sample , or it could be reflective 
 of the pattern seen in the sri lankan population . karyotypes such as 46,xx/46,xy , which was 
 seen in only one patient , are thought to result from chimerism , possibly from double 
 fertilization ( involving two spermatocytes  one x and one y ) of either a binucleate ovum or 
 of an ovum and its polar body ( 15 ) . in some of the patients , proper investigation and accurate diagnosis had been delayed for 
 many decades in spite of ambiguous genitalia being detected early in life , which led to 
 clinical and psychological problems in their adult life . it is therefore recommended that in 
 addition to cytogenetic evaluation , phenotypic males with ambiguous genitalia should be 
 thoroughly investigated by means of either abdominal ultrasound scan and/or exploratory 
 laparoscopy / laparotomy with histopathological examination to properly assess the exact 
 nature of their internal genital system . although considered a rare presentation , the cases 
 reported in this series suggest that abnormal inguinoscrotal or abdominal masses may occur 
 in ot - dsd and should be considered in the differential diagnosis of patients , especially in 
 those with cryptorchidism and inguinal hernia having the 46,xy karyotype .
ovotesticular disorder of sex development ( ot - dsd ) is a rare disorder of sexual 
 differentiation in which the gonads of an individual are characterized by the presence of 
 both mature ovarian and testicular tissues . 
 the objective of this paper is to report the 
 clinical , cytogenetic and histopathological findings in sri lankan patients diagnosed with 
 ot - dsd who were referred to the human genetics unit for cytogenetic evaluation during 2005 
 to 2011 . 
 five patients had histopathologically confirmed ot - dsd . 
 their ages at 
 presentation ranged from 2 mo to 47 yr . 
 clinical symptoms varied from ambiguous genitalia 
 and inguinal hernias at birth to a lower abdominal mass presenting in adulthood . 
 all 5 
 were reared as phenotypic males . 
 an ovotestis was detected in all cases except one , and 
 the predominant karyotype was 46,xy . 
 the findings in this series of predominantly 46,xy 
 karyotype are in contrast to previously published reports that have reported 46,xx as 
 being the predominant karyotype . 
 it is therefore recommended that individuals with 
 ambiguous genitalia who have the 46,xy karyotype should be thoroughly investigated by 
 ultrasonographic or laparoscopic assessment to determine the exact nature of their 
 internal genital organs . ot - dsd 
 should also be considered in the differential diagnosis of 
 patients with cryptorchidism and inguinal hernia .