Ambiguous genitalia - disorders of sexual differentiation.

摘要

In dealing with disorders of sexual differentiation, key points include immediacy, sensitivity, and team approach.When faced with the problem of ambiguous genitalia, we as Pediatric Adolescent Gynecologists must be there for the patient, the parents, and our colleagues who call upon us. A team approach that would include a pediatric urologist, a pediatric endocrinologist, a geneticist, and an appropriately trained gynecologic or pediatric surgeon is of paramount importance: What is the correct diagnosis? What are the immediate tests to order?Gender determination as a reflection of karyotype, endocrine test results, and anatomic starting point remains a key aspect of sex determination. The incidence of DSD is 2.2 per 10,000 births. Congenital adrenal hyperplasias, the vast majority of which are 21-hydroxylase deficiencies, carry an incidence of 1 per 16,000 births.