Abstract
A 5-month-old term baby was referred for ambiguous genitalia. Examination showed a right descended gonad, and an empty scrotum and an inguinal swelling on the left, no phallus and single external urogenital opening in the perinium with an EMS score of 2.5. Possibilities considered included ovo-testicular DSD, PAIS and testosterone biosynthetic defects. Beta HCG Stimulation test ruled out synthetic defects and with good testosterone response. USG abdomen/scrotum showed left inguinal undescended testes. Post Acton prolongatum stimulated cortisol was 43 mcg/dL and the Karyotyping was 46 XY. Diagnostic laparoscopy showed a left sided ovotestes with fallopian tube-like structure attached; and biopsy of gonad confirmed both ovarian and testicular tissue. Hence diagnosis of 46 XY Ovo testicular DSD was made; one which accounts for 3-10% of total DSD. We report this instance where absence of phallic structure is a rare presentation among cases of 46XY Ovo testicular DSD.
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