Final answer:
The differentiation between 5 alpha reductase deficiency and androgen insensitivity syndrome lies in the genetic and biochemical origin of each condition. AIS involves a mutation in the AR gene leading to unresponsive cells to testosterone, whereas 5 alpha reductase deficiency involves an enzyme issue that prevents the proper conversion of testosterone to DHT, affecting genital development.
Step-by-step explanation:
Individuals with androgen insensitivity syndrome have a normal production of androgens including testosterone, but their bodies cannot respond to these hormones properly. This is because of a mutation in the Androgen Receptor (AR) gene located on the X chromosome. AIS results in individuals with an XY karyotype developing with female physical traits or with ambiguous genitalia since their cells cannot respond to testosterone signals that would typically lead to male physical development. In the case of 5 alpha reductase deficiency, the issue lies with the enzyme 5 alpha reductase which is responsible for converting testosterone into dihydrotestosterone (DHT), a more potent androgen necessary for the development of male external genitalia in the womb. Deficiencies in this enzyme lead to underdeveloped or ambiguous genitalia in people with an XY karyotype, despite having normal muscle mass and secondary male sex characteristics that develop at puberty, when testosterone levels rise. The main differences between these conditions are primarily observed in their genetic origin and subsequent physiological effects. AIS is related to a dysfunctional androgen receptor, while 5 alpha reductase deficiency is due to insufficient production of DHT due to an enzyme deficiency.