Congenital Adrenal Hyperplasia CAH 1 Example of genetic

Congenital Adrenal Hyperplasia (CAH) 1) Example of genetic heterogeneity. 2) Natural quasi-experiment on the effects of prenatal androgens on behavior.

Cholesterol Ambiguous, no androgens, salt-wasting desmolase Pregnenolone Ambiguous, androgens, hypertension 17 -a-hydroxylase low 17 -Hydroxypregnenalone 3 -b-OHdehydrogenase Androgens Virilized, high androgens, lethal 17 -Hydroxyprogesterone Virilized, high androgens, salt-wasting 21 -hydroxylase 11 -Deoxycortisol Virilized, high androgens, hypertension 11 -b-hydroxylase Cortisol HGSS: Carey: Figure 5. 2 Key: Genitalia, androgen level, medical symptom

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: > 75% of cases Absent Cortisol Deficiency: 100% Rare

Enzymatic Pathway for Cortisol and Aldosterone ( : results of 21 -ODH-CAH)

Virilized Females: Adult Virilized emale: http: //psych. unn. ac. uk/users/nick/hormonespp 03/sld 023. htm

Masculine Feminine Toy Preference CAH Girls Control Boys CAH B o y s Control Girls Based on Berenbaum & Hines (1992) for children and Berenbaum (1999) for adolescents

Other Findings: (1) No difference between CAH boys and control boys on interest patterns, 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.