Congenital AdrenalHyperplasia (CAH)

1) Example of genetic heterogeneity.

2) Natural quasi-experiment on the effectsof prenatal androgens on behavior.

Cholesterol

Pregnenolone

17-Hydroxy-pregnenalone

17-Hydroxy-progesterone

11-Deoxycortisol

Cortisol

desmolase

17--hydroxylase

11--hydroxylase

21-hydroxylase

3--OH-dehydrogenase

Androgens

Ambiguous, no androgens, salt-wasting

Ambiguous, low androgens, hypertension

Virilized, high androgens, lethal

Virilized, high androgens, salt-wasting

Virilized, high androgens, hypertension

HGSS: Carey: Figure 5.2 Genitalia, androgen level, medical symptomKey:

21-Hydroxylase Deficiency: 21-OHD-CAH

Feature: Classical: Non-classical:

Prenatal virilization: Present in Females Absent

Postnatal virilization: Males & Females Variable

Salt-wasting: > 75% of cases Absent

Cortisol Deficiency: 100% Rare

Classic: No or very little enzyme activity (1/15,000 births)

Nonclassic: Low enzyme activity (1/100 births)

Enzymatic Pathway for Cortisol and Aldosterone

( : results of 21-ODH-CAH)

Virilized Females:

Adult Virilized emale:

http://psych.unn.ac.uk/users/nick/hormonespp03/sld023.htm

ControlGirls

ControlBoys

CAHGirls

CAHBoys

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Based on Berenbaum & Hines (1992) for children and Berenbaum (1999) for adolescents

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.