Congenital Adrenal Hyperplasia (CAH) is an autosomal reccesive inherited condition when adrenal cortex unable to produce sufficient cortisol; and in some cases, aldosterone. As a result from low level of cortisols, there is a negative feedback mechanism on pituitary gland leading to overproduction of ACTH. This will overstimulate the adrenal gland, but since it can not produce cortisol, androgen will be secreted, resulting in hyperandrogenism.

There are three main type of CAH:

  1. The Simple Virilizing type is a CAH type with this sign and symptoms: clitoromegaly, labial fusion, hyperpigmentation (especially in genitalia), precocious puberty, and the final height being lower than population height.
  2. The Salt Wasting type is a CAH type with severe insufficiency of cortisol and aldosterone. Signs and symptoms including vomiting, dehydration, unable to drink, electrolyte imbalance, and failure to thrive, as well as the symptoms mentioned in the Simple Virilizing type of CAH.
  3. The Non-Classical CAH is the mildest form of CAH. The signs and symptoms can appear later in life.

CAH normal. Graphic: Bas Adriaansen

CAH salt-losing. Graphic: Bas Adriaansen

CAH non-salt-losing. Graphic: Bas Adriaansen