Disorders of sex development need to be investigated to determine the cause and to make the crucial decision as to whether to bring up the child as a boy or a girl. These investigations will include blood tests to check for hormonal levels and often, imaging studies to assess for the presence of female organs such as the uterus.
The treatment of children with disorders of sex development depends on the underlying cause. In severe cases of Congenital Adrenal Hyperplasia (CAH) which is the most common of these disorders, treatment with steroid replacement therapy is essential for survival. CAH is a group of inherited genetic disorders in which the affected child does not have one of the enzymes needed by the adrenal glands to produce one or more of three steroid hormones: cortisol, which regulates your body's response to illness or stress; mineralocorticoids, which regulate sodium and potassium levels; or androgens, which are male sex hormones.
Surgery is often required for the external genitalia in accordance with the chosen sex of rearing as well as to remove the gonad contrary to the sex of rearing. Some children will also need sex hormone replacement during puberty. The multidisciplinary management team includes sub-specialty input and counselling from paediatric endocrinology, paediatric surgery and paediatric genetics & metabolism.