Complete androgen insensitivity syndrome in identical twins / 中华内分泌代谢杂志

Androgen insensitivity syndrome (AIS) is a recessive single gene disease of X chromosome, which is rare clinically and has a very low incidence in newborn boys. This is mainly due to the abnormal pathway in which androgens play a role, resulting in sexual differentiation disorder in patients. A pair of identical twins were admitted to our hospital, and a new pathogenic mutation site of the androgen receptor gene was found, resulting in an androgen insensitivity phenotype.