Congenital Adrenal Hyperplasia (CAH)

CAH is a genetic disorder affecting approximately 17,000 adult and pediatric patients in the United States. These patients have impaired cortisol synthesis, which results in persistently high levels of adrenocorticotropic hormone (ACTH). This, in turn, causes overstimulation of the adrenal cortex.

Clinical manifestations

Lack of cortisol synthesis puts patients at high risk of death from adrenal insufficiency. Additionally, hyperandrogenism may manifest, including signs and symptoms that include:

Infertility
Ambiguous genitalia
Precocious puberty
Excessive facial hair
Irregular menstrual cycles in women
Testicular adrenal rest tumors with associated pain in men

The burden on patient lives

CAH patients require lifelong cortisol supplementation with glucocorticoid steroids to prevent adrenal insufficiency, and many patients require very high doses to suppress elevated ACTH levels. Long-term treatment with high doses of glucocorticoids is frequently associated with significant weight gain, cardiovascular issues, diabetes, and osteoporosis, among other serious medical problems.