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:
- Develop a logical plan for investigation
- Arrive at a diagnosis and assign the appropriate gender
- Organise the medical, surgical, and psychological intervention in a multi-disciplinary setting
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.