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Disorders of sex development encompass a diverse range of diseases which present in a newborn with atypical external genitals or in an adolescent with atypical sexual development during the pubertal years. These clinical situations are difficult to manage and an initial comprehensive evaluation is necessary to:
Disorders of sex development can be due to many causes which include abnormalities in the sex chromosomes, genetic mutations affecting the development of the gonads (testes or ovary), inherited deficiencies in the enzymes for the production of sex hormones and androgen (male sex hormones) receptor unresponsiveness.
Babies with disorders of sex development may be born with genitals that are not fully formed. On occasion, parents may expect either a boy or a girl based on the chromosomal analysis performed during pregnancy. However, the external genitals are not what is expected when the baby is born. This can lead to parental confusion and much distress.
For older children, the disorders of sex development can surface:
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.
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