<unk>  (MAIS) presenting with a<unk>  impairment of virilization in a 23-year-old man. Individuals with<unk>  (or minimal)<unk><unk><unk>  (grade 1 on the Quigley scale) are born phenotypically male, with fully masculinized genitalia; this category of<unk><unk>  is diagnosed when the degree of<unk><unk>  in an individual with a 46,XY karyotype is great enough to impair virilization or spermatogenesis, but is not great enough to impair normal male genital development. MAIS is the<unk> est and least known form of<unk><unk><unk> . The existence of a variant of<unk><unk>  that solely affected spermatogenesis was theoretical at first. Cases of phenotypically normal males with isolated spermatogenic defect due to AR mutation were first detected as the result of male infertility evaluations. Until then, early evidence in support of the existence of MAIS was limited to cases involving a<unk>  defect in virilization, although some of these early cases made allowances for some degree of impairment of genital masculinization, such as hypospadias or micropenis. It is estimated that 2-3% of infertile men have AR gene mutations. It's also estimated that MAIS is responsible for 40% of male infertility. Examples of MAIS phenotypes include isolated infertility (oligospermia or azoospermia),<unk>  gynecomastia in young adulthood, decreased secondary terminal hair, high pitched voice, or minor hypospadias repair in childhood. The external male genitalia (penis, scrotum, and urethra) are otherwise normal in individuals with MAIS. Internal genitalia, including Wolffian structures (the epididymides, vasa deferentia, and seminal vesicles) and the prostate, is also normal, although the bitesticular volume of infertile men (both with and without MAIS) is diminished; male infertility is associated with reduced bitesticular volume, varicocele, retractile testes, low ejaculate volume, male accessory gland infections (MAGI), and mumps orchitis. The incidence of these features in infertile men with MAIS is similar to that of infertile men without MAIS. MAIS is not associated with Müllerian remnants. Spinal and bulbar muscular atrophy Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a severe neurodegenerative<unk>  that is associated with a particular mutation of the<unk>  receptor's polyglutamine tract called a trinucleotide repeat expansion. SBMA results when the length of the polyglutamine tract exceeds 40 repetitions. Although technically a variant of MAIS, SBMA's presentation is not typical of<unk><unk> ; symptoms do not occur until adulthood and include neuromuscular defects as well as signs of<unk>  inaction. Neuromuscular symptoms include progressive proximal muscle weakness, atrophy, and fasciculations. Symptoms of<unk><unk>  experienced by men with SBMA are also progressive and include testicular atrophy, severe oligospermia or azoospermia, gynecomastia, and feminized skin changes despite elevated<unk>  levels. 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. SBMA is often misdiagnosed as amyotrophic lateral sclerosis (ALS) (also known as Lou Gehrig's disease). 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. The polyglutamine tract in affected pedigrees tends to increase in length over generations, a phenomenon known as "anticipation", leading to an increase in the severity of the disease as well as a decrease in the age of onset for each subsequent generation of a family affected by SBMA. Comorbidity Histopathology of testicular tissue showing immature germ cells and spermatagonia with decreased tubular diameter. Scattered groups of Leydig cells appearing immature. All forms of<unk><unk>  are associated with infertility, though exceptions have been reported for both the<unk>  and partial forms. Lifespan is not thought to be affected by AIS.
Mild androgen insensitivity syndrome
Partial androgen insensitivity syndrome
Complete androgen insensitivity syndrome
Androgen insensitivity syndrome
Estrogen insensitivity syndrome
Familial male-limited precocious puberty
Aromatase excess syndrome
Kallmann syndrome