Disorders of Sexual Differentiation

Also known as: DSDs, disorders of sex development

What are disorders of sexual differentiation?

Disorders of sexual differentiation can refer to a wide range of different medical conditions that all impact the normal development of the baby’s sexual organs. They can range from sexual organs that don’t develop as fully as they should to the development of different-than-expected sexual organs that lead to questions about gender identity.

What causes disorders of sexual differentiation? 

The most common DSDs are congenital adrenal hyperplasia and mixed gonadal dysgenesis; others include Androgen insensitivity syndrome (AIS), and Impaired testicular development. Most of these disorders are caused by genetic/ chromosomal abnormalities, though some may be  idiopathic, where no cause can be found.

What are the signs/symptoms/ management of disorders of sexual differentiation? 

Children with DSDs have genitalia which are either ambiguous or malformed. A detailed discussion with your specialist pediatrician/geneticist/pediatric urological surgeon at Nicklaus Children's Hospital will enable you to understand the underlying abnormality present, its likely cause and the best treatment approaches, which may include medical and hormone therapy, reconstructive surgery and psychosocial support; to optimize the long term benefit for your baby and your family.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 3/23/2018 2:16:11 PM

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Dr. Miladys Palau-Collazo is a pediatric endocrinologist with The Division of Endocrinology at Nicklaus Children's Hospital.

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