“Error Traps” in Diagnosis of Disorders of Sexual Development

Arriving at a diagnosis in a child with ambiguous genitalia is a challenging task which is associated with many pitfalls and likelihood of error commitment. There could be overlooking of certain aspects which can lead to an erroneous diagnosis. The text here details diagnostic dilemmas or atypical results during work up of patients with DSD. Such situations which are likely to cause suboptimal or erroneous diagnosis may be labelled as the “error traps” and attending clinician or surgeon must keep these in mind so as to prevent making a wrong diagnosis as it has got the far-reaching implications. The wrong diagnosis not only leads to a wrong sex assignment, but it can have long-lasting psychosexual development disorders and in later time can raise a legal issue also. So, the attending clinician has to be very careful about proceeding with the diagnosis of the case and must look into smallest details of the diagnostic investigations undertaken along with the correct interpretation of these investigations with the help of experts.