AIS have features that are apparent at birth:

 • Having a labia and clitoris

 • A shallow vagina because the müllerian system did not contribute in development

However, other developments are not shown until puberty, such as:

 • Breast development (estrogen to androgen ratio is high allowing this)

 • No menstruation because individuals lack ovaries and an uterus

Features of AIS

The androgen receptor is on the X chromosome. If the gene is dysfunctional in XY individuals, there is insufficient androgen receptors resulting in the wolffian ducts being unable to sense testosterone and regress. 

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There are various individuals that do not have either a XX or XY genetic makeup, or even those that do are still influenced by androgens causing an internal or external difference from those with a typical development. These include: 

•  Turner's Syndrome

•  Congenital Adrenal Hyperplasia (CAH)

•  Intersex

•  Androgen Insensitivity Syndrome (AIS)

•  Changing Sex at Puberty

Possible Changes in the Sexual Differentiation Sequence

Breedlove, S. & Watson, N. (2017). Behavioral neuroscience, eighth edition. Oxford University Press.

Behavioral Neuroscience 8th Edition

People with only one sex chromosome (X, as a single Y can not survive development). This is defined as Turner's syndrome, a female with underdeveloped ovaries because there is no SRY gene present.

Turner's Syndrome

XX individuals can also be exposed to androgens in utero causing them to be masculinized. One possible cause is congenital adrenal hyperplasia (CAH) where the adrenal glands instead of producing corticosteroids, produce androgens. 

Congenital Adrenal Hyperplasia (CAH)

Androgen Insensitivity Syndrome (AIS)

Intersex refers to an atypical genital development that resembles an intermediate between typical male and female appearance. There are several possible causes for this condition. Hormone levels can be controlled after birth, but external appearance cannot be modified without surgical intervention.

Intersex

There are individuals with a rare genetic mutation that causes 5α-reductase, the enzyme that converts testosterone to DHT, to be disabled. An XY individual with this condition will have testes and other internal male structures, but the external genitalia will not fully masculinize. Affected individuals are typically raised female until puberty when androgen production increase and the external genitalia is more masculinized. 

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