Rarer Causes of 46 XX DSD

After excluding the common causes in a female child that presents with a disorder of sexual development, the less common causes, although very rare should be considered. In a newborn girl, that presents with clitoromegaly, a history of maternal virilization should be sought as this may be suggestive of a maternal tumor, exposure to androgenous drugs, or placental aromatase deficiency. In an older girl presenting with absent sexual characters and delayed onset of puberty with primary amenorrhea, the diagnosis of gonadal dysgenesis should be considered after excluding other conditions. These girls have a normal external and internal female phenotype but with premature ovarian failure, leading to bilateral streak gonads. Hormonal replacement is generally needed in these patients.