Steroidogenic pathway for cortisol, aldosterone, and sex steroid synthesis.

A mutation or
deletion of any of the genes that code for enzymes involved in cortisol or aldosterone
synthesis results in congenital adrenal hyperplasia. The particular phenotype that results
depends on the sex of the individual, the location of the block in synthesis, and the severity
of the genetic deletion or mutation.
A female patient with the 46,XX karyotype with mild virilization due to congenital virilizing
adrenal hyperplasia secondary to 21-hydroxylase deficiency. Despite the mild clitoromegaly,
this patient has fusion of the labial-scrotal folds and salt wasting.

Severe virilization in a female patient with the 46,XX karyotype with congenital adrenal
hyperplasia secondary to 21-hydroxylase deficiency. This patient also has salt wasting.

Short stature in a male patient with congenital adrenal hyperplasia secondary to 21-
hydroxylase deficiency. His compliance with medical therapy was poor, and early growth
and skeletal maturation was advanced, resulting in early puberty and completion of growth.
This 12-year-old boy has reached final adult height, which is well below that of his mother.