Epidemiology

The overall incidence of all differences of sex development (DSD) has been estimated at 1.7%, but this includes conditions that usually do not present with atypical genitalia at birth, such as Turner syndrome, Klinefelter syndrome, and complete androgen insensitivity syndrome.[3]

The prevalence of atypical genitalia at birth may be up to 1 in 300 births; however specialist input is required in about in 1 in 3000 births and sex assignment is delayed in 1 in 11,000 births.[4][5] In boys with atypical genitalia, chromosomal abnormalities have been reported to be present in approximately 3% of those with isolated cryptorchidism, 7% with hypospadias, and 13% of those with cryptorchidism and hypospadias.[6][7]

The incidence of 46,XY DSD is estimated at 1 in 20,000 live male births.[8] In one review of gonadal developmental disorders among patients with atypical genitalia or delayed puberty, 52% of patients had 46,XY DSD, 35% had 46,XX DSD, and 14% had a disorder of gonadal development.[9] Overall, in 46,XY DSD patients with no clear abnormality of steroidogenesis, a genetic diagnosis is made in less than 50% of patients.[7] This contrasts with 46,XX DSD, where classic congenital adrenal hyperplasia accounts for over 95% of cases.

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