A case series of five Sri Lankan patients with ovotesticular disorder of sex development

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dc.contributor.authorWettasinghe, K.
dc.contributor.authorSirisena, N.
dc.contributor.authorAndraweera, P.
dc.contributor.authorJayasekara, R.
dc.contributor.authorDissanayake, V.
dc.date.issued2012
dc.description.abstractOvotesticular 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.
dc.description.statementofresponsibilityKalum T. Wettasinghe, Nirmala D. Sirisena, Prabha H. Andraweera, Rohan W. Jayasekara, Vajira H. W. Dissanayake
dc.identifier.citationClinical Pediatric Endocrinology, 2012; 21(4):69-73
dc.identifier.doi10.1297/cpe.21.69
dc.identifier.issn0918-5739
dc.identifier.issn1347-7358
dc.identifier.orcidAndraweera, P. [0000-0003-2434-8370]
dc.identifier.urihttp://hdl.handle.net/2440/82483
dc.language.isoen
dc.publisherJapanese Society for Pediatric Endocrinology
dc.rightsCopyright© 2012 by The Japanese Society for Peiatric Endocrinology
dc.source.urihttps://doi.org/10.1297/cpe.21.69
dc.subjectovotestis
dc.subjecttrue hermaphroditism
dc.subjectdisorder of sex development
dc.subjectambiguous genitalia
dc.titleA case series of five Sri Lankan patients with ovotesticular disorder of sex development
dc.typeJournal article
pubs.publication-statusPublished

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