DSDs are defined as congenital conditions associated with atypical development of chromosomal, gonadal, or anatomical sex [4]. There are limited data on the incidence of DSDs; it is estimated that the overall incidence of DSDs is one in 5,500 [5,6].

How common is DSD?

DSDs are defined as congenital conditions associated with atypical development of chromosomal, gonadal, or anatomical sex [4]. There are limited data on the incidence of DSDs; it is estimated that the overall incidence of DSDs is one in 5,500 [5,6].

What is gonadal dysgenesis?

Gonadal dysgenesis, or Turner syndrome (TS), is a condition characterized by short stature and ovarian dysgenesis. Patients are females with either a missing X chromosome (45 XO) or an abnormality of one of the X chromosomes. It occurs in 1 in 2000 to 1 in 5000 female live births.

Is ambiguous genitalia recessive?

Autosomal recessive means that each parent carries one copy of the gene, and transmits the gene at the same time to the child. Carrier parents have a one in four, or 25 percent, chance, with each pregnancy, of having an affected child. Affected females have ambiguous genitalia, but affected males do not.

Are people with DSD male or female?

If your child has a disorder of sex differentiation (DSD), the sex chromosomes may still be female (XX) or male (XY). At the same time, your child’s reproductive organs and genitals may be those of the opposite sex. That leaves the sex assignment unclear or a mixture of both male and female.

Is DSD intersex?

Disorders of sex development, or DSD (previously called intersex), includes a range of conditions that lead to abnormal development of the sex organs and atypical genitalia — genitalia that is not clearly male or female. Often, the cause of DSD is unknown.

Is gonadal dysgenesis intersex?

Mixed gonadal dysgenesis is an intersex syndrome characterized by a unilateral streak gonad, persistent müllerian duct structures and ambiguous genitalia. These patients are chromatin negative and exhibit XO/XY mosaicism. The disorder probably results from a cytogenetic error that occurs early in embryogenesis.

What are the two gonads?

The gonads, the primary reproductive organs, are the testes in the male and the ovaries in the female.

How is ambiguous genitalia treated?

For girls with ambiguous genitalia, the sex organs may work normally despite the ambiguous outward appearance. If a girl’s vagina is hidden under her skin, surgery in childhood can help with sexual function later. For boys, surgery to reconstruct an incomplete penis may normalize appearance and make erections possible.

What is the most common cause of ambiguous genitalia?

Ambiguous genitalia primarily occurs when hormone abnormalities during pregnancy interrupt or disturb the fetus’s developing sex organs.

Are DSD athletes male?

DSD stands for “differences of sexual development.” The World Athletics policies apply to women with 46, XY DSD—they have an X and Y chromosome in each cell (a typical male pattern) and male-range testosterone levels, as well as genitalia that is not typically male or female.

What is DSD or intersex?