A Clinical Approach to Diagnosis of Ambiguous Genitalia

Disorders of sex development (DSD) are a sensitive and stressful condition for the family as well as the treating physician to deal with. The main issue in managing such cases is sex assignment. The decision is influenced by the cultural background, the sex of rearing, clinical features, the biochemical parameters including hormonal studies, the imaging reports, parental preference, fertility potential, and the assessment of mental make-up of the child when possible. In third world countries, there is diagnostic dilemma as most children with DSD present late and a detailed-lengthy work-up often delay their definitive treatment. In this article, the authors try to identify the important clinical features in children presenting with various types of DSD, which may aid in making a quick provisional clinical diagnosis and expediting the diagnostic work-up. The data have been gathered from 38 years of experience of the senior author while managing about 1200 cases of DSD in the pediatric intersex clinic at the tertiary care level institute.