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. Author manuscript; available in PMC: 2017 Feb 22.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2013 Jan 18;163C(1):3–15. doi: 10.1002/ajmg.c.31351

TABLE I.

Conditions in Which Variations in Hormone Exposure or Sensitivity Allow for Assessment of the Biological Contribution to Sexual Differentiation of the Human Brain

Condition Hormonal impact Effects on sexual differentiation of the brain
DES exposure in utero Elevated estradiol during brain development Inconsistent or modest effects on masculinization or feminization
Estrogen insensitivity Exceedingly rare but recently discovered men with mutations in the aromatase gene or estrogen receptor Mild reduction in libido but otherwise normal
Androgen insensitivity syndrome Spontaneous mutation of the androgen receptor gene results in complete or partial loss of cellular sensitivity to androgens XY males develop as behaviorally phenotypic females
5-Alpha reductase deficiency Reduced production of DHT leads to incomplete masculinization of genitalia at birth, masculinization proceeds at puberty Majority of XY individuals choose to live as males post puberty
Congenital Adrenal hyperplasia (CAH) Elevated androgen exposure in utero, girls born with partially masculinized genitalia Small but significant increase in homosexuality, significant shift towards male-typic behaviors but within the normal range
Klinefelter syndrome (XXY) Reduced androgen exposure in males throughout life Behavioral changes and significant deficits in speech and language capabilities