Definition
- Patients with ambiguous genitalia have disorders
of sexual development (DSD).
- Previously termed intersex conditions
- The nomenclature used to describe atypical sexual differentiation has changed.
- Patient advocacy groups were concerned that the terminology was pejorative
- Historically, the term male pseudohermaphrodite was used to describe the patient with incompletely masculinized external genitalia possessing XY chromosomes and a typical number of autosomes (also known as 46, XY karyotype).
- These conditions are now denoted as 46, XY DSD.
- The term female pseudohermaphrodite was used to describe the patient with 46, XX karyotype and with masculinized external genitalia.
- Currently, these disorders are denoted as 46, XX DSD.
- In some rare cases, a patient has both ovarian and testicular tissue.
- These patients had been called true hermaphrodites in the past.
- They are now considered to have ovotesticular DSD.
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