Boards and Beyond has a good flow chart for ambiguous genitalia. If the patient is XX - do they have mullerian structures? If yes, it's CAH (increased androgens). If they patient is XY - do they have mullerian structures? If yes, gonadal dysgenesis (no MIH). If no, then it could be due to abnormal androgen receptors, CAH, or low DHT.
46,XX DSD due to excessive and inappropriate exposure to androgenic steroids during early gestation (i.e. congenital adrenal hyperplasia).
Phenotype- male; genotype- female
I could think 2 causes 1. Placental aromatase defc 2. CAH (21 OH defc)
1 isnโt an option.
Just to add: gonadal dysgenesis is "defective development of the gonads in an embryo, with reproductive tissue replaced with functionless, fibrous tissue, termed streak gonads" per wiki. This is common in Turner's syndrome. External genetalia are typically normal at birth.
Just to add: gonadal dysgenesis is "defective development of the gonads in an embryo, with reproductive tissue replaced with functionless, fibrous tissue, termed streak gonads" per wiki. This is common in Turner's syndrome. External genetalia are typically normal at birth.
submitted by โmaxillarythirdmolar(45)
Likely an inhibition of 21-hydroxylase. This is the most common of the congenital adrenal hyperplasias. Presents in infancy or childhood.
Another symptom they may have that I've seen around is vomiting!! Took me a while to find it, but they are salt wasting by having no aldosterone, so the loss of electrolytes is causing increased ICP.