DSD Flashcards
1
Q
CAH - initial assessment
A
Glucose, renal function Arterial blood gas/serum pH Cortisol ACTH 17-OHP Pelvic ultrasonography Karyotype
2
Q
mixed gonadal dysgenesis
A
Most commonly result of 45X/46XY mosaicism
Can have inguinal testes, with limited endocrine function, on one side with dysgenetic streak gonad and persistent Mullerian derivatives on other side
External genitalia variable
Predominantly female
3
Q
enzymatic vs chromosomal abnormalities depending on gonadal symmetry
A
if gonads symmetrically there or not there then likely enzymatic problem
if assymmetrical then likely chromosomal issue
