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Disorders of Sex Development


The ovaries and testes (gonads) develop early in a fetus, based on whether the fetus’s 23rd pair of chromosomes is two X chromosomes (female) or an X and Y chromosome (male). Through a complex cascade of hormonal signals involving the gonads, internal and external genitalia develop into male or female. When this complex process is disrupted or altered, a baby can be born with genitalia that do not look like a typical male or typical female and are considered ambiguous genitalia. These types of conditions are called disorders of sex development (DSD).

There are many different types of DSD and finding the correct diagnosis and creating an effective management plan can be challenging. The Children’s Health Disorders of Sex Development Center is a unique institution dedicated to the care and management of children with a disorder of sex development (DSD). Our pediatric specialists include urologists, endocrinologists, geneticists and psychologists who are expert in diagnosing and managing infants, children and adolescents with DSD.

What to Expect

There are many different causes of DSD and our team’s goal is to make an accurate diagnosis and help the family make the best choices about care and upbringing of their child with DSD. Children with DSD can be referred to the Center when DSD is diagnosed, either at birth, later in childhood or in adolescence.

Initially, a urologist and endocrinologist will be part of your child’s care team. Other specialists, such as geneticists or psychologists, may also be involved. We encourage questions from the family and provide frequent updates on any results.


Treatment for DSD depends greatly on the diagnosis. Once the diagnosis is made, treatment recommendations and options will be discussed. Treatment can include medication, surgery or no active treatment may be needed at all. The long-term follow up and prognosis for patients with DSD also depends greatly on the diagnosis.



Conditions We Treat

Ambiguous genitalia is when external genitalia do not look like a typical female or male. This is a typical reason for a DSD diagnosis to be suspected in a newborn infant.

Congenital adrenal hyperplasia (CAH) is a disorder of hormone synthesis that leads to increased levels of male hormones (androgens). Females with CAH will have varying degrees of ambiguous genitalia while males typically have normal external genitalia. Males and females can be born with life- threatening electrolyte imbalances and may have issues with short stature after puberty. CAH is a chronic disease and medical and surgical management are both important.

Androgen insensitivity syndromes are conditions where the body’s receptors to the male hormones (androgens), such as testosterone, are defective. In complete androgen insensitivity syndrome (CAIS), genetic males with XY chromosomes may have the appearance of normal females externally, have normal female gender identity, but will lack internal female organs such as a uterus. Genetic males can have varying degrees of ambiguous genitalia in partial androgen insensitivity syndrome (PAIS).

Gonadal Dysgenesis is a group of disorders where the gonads (testes or ovaries) do not develop properly. There are many different causes of gonadal dysgenesis and the external genitalia can have varying degrees of ambiguity. Genetic males with XY chromosomes with a form of complete gonadal dysgenesis called Sawyer Syndrome can have the external appearance of females.


What is a disorder of sex development (DSD)?

DSD is a condition in which the sexual development that occurs during fetal growth does not happen as it should. DSD can develop genetically, be inherited or have no identifiable cause. Children with DSD will normally have atypical-appearing genitalia (genitalia that do not look normal) at birth, but the severity of DSD varies.

What is the outlook for a child with DSD?

With proper medical, surgical and psychosocial care, most children with DSD lead healthy, normal lives. Making an educated determination of the child’s sex is important both for treatment purposes, as well as for the emotional well-being of the child.