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Forensic Medicine · Identification: ovotesticular disorder of sex development
Sample itemGonadal biopsy in a patient with ambiguous genitalia shows ovarian tissue with follicles in one part and testicular tissue with seminiferous tubules in another. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. True hermaphroditism (ovotesticular DSD)
In true hermaphroditism both ovarian and testicular tissue are present in the same individual, in one gonad (ovotestis) or in separate gonads. In pseudohermaphroditism the gonads are of one sex only but the external genitalia do not match.
Option by option
A. Female pseudohermaphroditism
Female pseudohermaphroditism has ovaries only with virilised external genitalia.
B. Male pseudohermaphroditism
Male pseudohermaphroditism has testes only with under-masculinised genitalia.
C. Klinefelter syndrome
Klinefelter syndrome has small testes and an XXY karyotype without ovarian tissue.
D. True hermaphroditism (ovotesticular DSD) (correct)
Correct. Both gonadal tissues in one person define it.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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