Disorders of Sex Development Flashcards
1
Q
CAH
A
caused by several genes
CYP21A2: SNPs (65-75%) or 30kb deletion resulting in chimera psuedogene/gene (20-30%)
female with ambiguous genitalia, salt-wasting, virilization
long-range PCR diagnostic test necessary b/c of upstream paralogous pseudogene
fun fact! CYP21A2 is next to TNXB, so you might see a CAH/EDS phenotype
