Congenital Adrenal

1
Congenital Adrenal Hyperplasia (CAH)

1. Example of genetic heterogeneity.
2. Natural quasi-experiment on the effectsof
   prenatal androgens on behavior.

2
Key
Genitalia, androgen level, medical symptom
HGSS Carey Figure 5.2
3
21-Hydroxylase Deficiency 21-OHD-CAH
Classic No or very little enzyme activity
(1/15,000 births)
Nonclassic Low enzyme activity (1/100 births)
Feature Classical Non-classical
Prenatal virilization Present in Females Absent
Postnatal virilization Males Females Variable
Salt-wasting gt 75 of cases Absent
Cortisol Deficiency 100 Rare
4
Enzymatic Pathway for Cortisol and Aldosterone
( results of 21-ODH-CAH)
5
Virilized Females
Adult Virilized emale
http//psych.unn.ac.uk/users/nick/hormonespp03/sld
023.htm
6
(No Transcript)
7
Other Findings

1. No difference between CAH boys and control boys
   on interestpatterns, personality, cognition, and
   sex orientation.
2. CAH girls are more masculine in interest patterns
   than control girls.
3. CAH girls have more masculine personality
   traits more aggressive, less interested in
   infants, less maternal, and less empathetic than
   control girls.
4. CAH girls have higher spatial-visualization and
   spatial orientation than control girls.
5. Most CAH girls are heterosexual (c. 70), but
   have a higher rate of same-sex orientation than
   their sisters.
6. Biggest difference between CAH and control girls
   is on interest patterns.