NR5A1 and partial androgen insensitivity syndrome: Therefore, all the clinical features of patient 13, including the extremely reduced AMH level, the lack of gynecomastia and a comparatively developed penis, especially under the effects of a relatively low T concentration, may be explained by the dysfunction of the NR5A1 gene resulting from the mutation p.T29K and suggested the improper diagnosis of PAIS in this patient.