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

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Congenital Adrenal Hyperplasia (CAH) 1)Example of genetic heterogeneity. 2)Natural quasi-experiment on the effects of 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 symptom Key:

21-Hydroxylase Deficiency: 21-OHD-CAH Feature:Classical:Non-classical: Prenatal virilization:Present in FemalesAbsent Postnatal virilization:Males & FemalesVariable Salt-wasting:> 75% of casesAbsent 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:

Control Girls Control Boys CAH Girls CAH B o y s Toy Preference Feminine Masculine 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.