Background: Disorders of sex development (DSD), formerly known as ambiguous genitalia, is a birth defect where the outer genitalia do not have the typical appearance of either a boy or a girl.
Aim and objective: To evaluate the role of pelvic ultrasound (US) in assessing the ambiguous genitalia. Design and setting: A retrospective, hospital based study was conducted at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia during the period January 1989 and December 2014.
Methods: Medical records of children with the diagnosis of disorders of sex development (DSD) were retrospectively reviewed. Data included age, sex, family history, clinical presentation, and results of relevant laboratory and radiological investigations.
Results: During the period under review (January 1989 and December 2014), a total of 119 patients with ambiguous genitalia were seen. Sixty-three were 46XX DSD and 56 patients were 46XY. Five patients were excluded from the study, due to incomplete procedures, 46XX DSD in three and two with 46XY DSD. The presence of a uterus was predicted by ultrasound in 55 (92%) of 46XX DSD, while no false positive in 46XY DSD.
Conclusion: Pelvic ultrasonography (US) remains the initial modality in assessing ambiguous genitalia, not only because its sensitivity and specificity in identifying the internal organs, but also due to its ability in detecting the enlarged adrenal glands in congenital adrenal hyperplasia which is a common cause.
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2022: 6.012
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