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 |