The phenotypes that result from the insensitivity to androgens are not unique to<unk> , thus the diagnosis of<unk>  requires thorough exclusion of other causes. Clinical findings indicative of<unk>  include the presence of a short vagina or undermasculinized genitalia, partial or complete regression of Müllerian structures, bilateral nondysplastic testes, and impaired spermatogenesis and/or virilization. Laboratory findings include a 46,XY karyotype and typical or elevated postpubertal testosterone, luteinizing hormone, and estradiol levels. The androgen binding activity of genital skin fibroblasts is typically diminished, although exceptions have been reported. Conversion of testosterone to dihydrotestosterone may be impaired. The diagnosis of<unk>  is confirmed if androgen receptor gene sequencing reveals a mutation, although not all individuals with<unk>  (particularly PAIS) will have an AR mutation (see Other Causes). Each of the three types of<unk>  (complete, partial, and mild) has a different list of differential diagnoses to consider. Depending on the form of<unk>  suspected, the list of differentials can include: Classification DSD/intersex conditions<unk>  is broken down into three classes based on phenotype: complete<unk>  (CAIS), partial<unk>  (PAIS), and mild<unk>  (MAIS). A supplemental system of phenotypic grading that uses seven classes instead of the traditional three was proposed by pediatric endocrinologist Charmian A. Quigley et al. in 1995. The first six grades of the scale, grades 1 through 6, are differentiated by the degree of genital masculinization; grade 1 is indicated when the external genitalia is fully masculinized, grade 6 is indicated when the external genitalia is fully feminized, and grades 2 through 5 quantify four degrees of decreasingly masculinized genitalia that lie in the interim. Grade 7 is indistinguishable from grade 6 until puberty, and is thereafter differentiated by the presence of secondary terminal hair; grade 6 is indicated when secondary terminal hair is present, whereas grade 7 is indicated when it is absent. The Quigley scale can be used in conjunction with the traditional three classes of<unk>  to provide additional information regarding the degree of genital masculinization, and is particularly useful when the diagnosis is PAIS. Complete<unk>  Partial<unk>  Mild<unk>
Androgen insensitivity syndrome
Mild androgen insensitivity syndrome
Partial androgen insensitivity syndrome
Complete androgen insensitivity syndrome
Estrogen insensitivity syndrome
Kallmann syndrome
Klinefelter syndrome
Turner syndrome