Imaging and Endoscopy in the Evaluation of DSD

The diagnosis of Differences in Sex Development (DSD) in a child is associated with considerable anxiety in the parents and patients alike and arriving at an early diagnosis is important. A thorough clinical evaluation with a preliminary panel of karyotyping, biochemical, and hormonal assay is accompanied by non-invasive imaging. Cystogenitoscopy and laparoscopy are further specific adjuncts that help in treatment planning and prognostication. Ultrasonography, a widely available and non-invasive modality, is extensively used in the prenatal and postnatal periods. Phenotypic abnormalities in the external genitalia—genitourinary tract in prenatal scans and discordance of findings with the fetal karyotype lead to a suspicion of DSD. A fetal MRI may aid further in imaging the fetal pelvic anatomy and adrenomegaly. The ultrasonogram is the preferred initial investigation of choice postnatally to assess Mullerian structures, gonads, rectal and bladder abnormalities, and allows for serial observation and follow-up in these patients. A genitogram is a contrast study that delineates the lower genital tracts in the evaluation of a persistent urogenital sinus or a persistent cloaca. It is difficult to perform and is being replaced by genitoscopy where feasible. Magnetic Resonance Imaging is superior to ultrasonography in imaging Mullerian structures and localizing intra-abdominal gonads but is limited by the need for general anesthesia in young children. Direct visualization of the lower genital tracts by genitoscopy offers objective information that aids surgical reconstruction of the urogenital anomaly. Laparoscopy is superior to both USG and MRI in assessing Mullerian and Wolffian structures and gonads and obtaining crucial biopsies. In addition, it allows multiple therapeutic interventions including gonadectomy, orchidopexy, and genital reconstruction. Imaging and endoscopic investigations are tailored to the individual patient to allow quick and cost-effective evaluation with those requiring anesthesia combined with planned therapeutic interventions.