Medical audit of children with ambiguous genitalia-review of children treated over 18 years

Abstract

Introduction: The survival of a newborn or a child presenting with ambiguous genitalia depends upon the timely diagnosis and institution of appropriate medical care. We undertook this study with the aim to determine if appropriate clinical and confirmatory diagnosis was arrived on time and if the treatment instituted was relevant and satisfactory. Methods: All children who were evaluated for ambiguous genitalia under the Department of Pediatric Endocrinology over the preceding 18 years were invited for a review. Data including time taken to make a clinical diagnosis, time taken to confirm the diagnosis, reasons for delay if any, and appropriateness of the sex assigned for rearing and treatment instituted were collected from the charts. Patients were evaluated for adequacy of response to treatment, compliance, problems encountered if any and subjective parental satisfaction. Results: A total of 165 children were diagnosed to have conditions with ambiguous genitalia and were called for a review. 33 children attended the review. 15 were being raised as boys and 18 as girls. 12 children had virilising congenital adrenal hyperplasia (CAH), 6 had cryptorchidism, 6 had hypospadias, 3 had complete and 1 had partial testicular feminisation, 2 had mixed gonadal dysgenesis (MGD), 2 had hypogonadism and 1 was a true hermaphrodite. An appropriate clinical diagnosis was made in 30childrenon the day one and a final confirmatory diagnosis was made within a month in 23. Conclusion: In most conditions presenting with ambiguous genitalia, a clinical and confirmatory diagnosis can be made in a short duration. Initiation of appropriate treatment results in favourable outcomes in terms of growth sexual identity and adaptation.