Terminology and Clinical Evaluation in the Diagnosis of DSD

The diagnosis of a suspect DSD is best done in the setting of a multidisciplinary specialty clinic involving experts from various fields under a lead consultant. The clinical evaluation begins with a critical analysis of the prenatal history (including maternal obstetric history) and investigations (imaging, genetic studies), birth and neonatal events, and relevant family history. In later presentations, the prepubertal and pubertal history is recorded. The indications for evaluation for a DSD are reviewed. Clinical evaluation includes general (e.g., BP, height, and habitus) and systematic review for syndromic associations (e.g., Turner and Kline Felter) and multisystemic involvement (e.g., Cloacal anomaly, hydrometrocolpos, and hydroureteronephrosis), particularly of the closely associated urogenital tract. A detailed assessment of external genital morphology (phallic structure, genital orifice, genital folds, and gonads) with attention to specific details (e.g., Stretched penile length, gonadal symmetry, and anogenital ratio) is done. Findings are serially documented using standard scoring systems (e.g., Tanner, Prader, and External genitalia score) for uniformity and comparison across time periods. Pubertal changes are carefully chronicled and photographic documentation with appropriate consent is advisable in all cases. The clinical evaluation concludes with making a broad provisional working diagnosis of a sex chromosomal DSD/46 XY DSD/46 XX DSD. A preliminary panel of investigations (serum biochemistry, ultrasonography, karyotype) is awaited before further specific, directed investigations to clinch a final diagnosis as per the Chicago consensus terminology.