Our result demonstrated that: (1) the polymorphisms of Leptin gene have no association with genetic susceptibility/severity of AIS, and the leptin gene expression was normal in AIS induced adipocytes and osteoblasts after adjustment of the differentiation rate, indicating the change of serum leptin level probably is a secondary event; (2) low capability of adipogenesis is found in AIS girls; (3) the expression of leptin receptor is decreased in AIS which may lead to (4) hyposensitivity of AIS to leptin. This evidence concerns the gene LEPR and androgen insensitivity syndrome.