The results emphasize the importance of CAH as the most common diagnosis in 46XX cases presenting with ambiguous genitalia. Those with 46XY had a wider range of diagnoses. Despite thorough investigation, 23.5% had no definite final diagnosis made.

Children without an aetiological diagnosis for the uncommon condition of acquired CDI require careful follow-up. More intensive investigation at presentation (e.g. estimation of cerebrospinal fluid human chorionic gonadotrophin) promises to lessen the number of such cases. Pituitary stalk biopsies should be reserved for those patients with progressive MRI changes. If these changes do not occur early, our experience suggests that follow-up MRI scans may need to be performed only yearly.