Upload
benedict-lawson
View
226
Download
5
Embed Size (px)
Citation preview
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
To
y P
refe
ren
ce
Fem
inin
eM
ascu
lin
e
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.