Female genital and sexual development is not significantly affected by the insensitivity to androgens;[3][4] as such, MAIS is only diagnosed in males.

[1] The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair.

[24] Examples of MAIS phenotypes include isolated infertility (oligospermia or azoospermia),[5][7] mild gynecomastia in young adulthood, decreased secondary terminal hair, high pitched voice, or minor hypospadias repair in childhood.

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a severe neurodegenerative syndrome that is associated with a particular mutation of the androgen receptor's polyglutamine tract called a trinucleotide repeat expansion.

[1] Disease onset, which usually affects the proximal musculature first, occurs in the third to fifth decades of life, and is often preceded by muscular cramps on exertion, tremor of the hands, and elevated muscle creatine kinase.

[27] The symptoms of SBMA are thought to be brought about by two simultaneous pathways involving the toxic misfolding of proteins and loss of AR functionality.

[46][47][48][49][50][51] A comprehensive meta-analysis of the subject published in 2007 supports the existence of the correlation, and concluded that these discrepancies could be resolved when sample size and study design are taken into account.

[3] A high ASI in a normal phenotypic male,[46] especially when combined with azoospermia or oligospermia,[5][7] decreased secondary terminal hair,[27] and/or impaired conversion of T to DHT,[3] can be indicative of MAIS, and may warrant genetic testing.

Treatment includes surgical correction of mild gynecomastia, minor hypospadias repair, and testosterone supplementation.

[1][15][55] Supraphysiological doses of testosterone have been shown to correct diminished secondary sexual characteristics in men with MAIS,[15] as well as to reverse infertility due to low sperm count.