What Is Congenital Adrenal Hyperplasia (CAH)?

Contents

The remedies for CAH embrace remedy, psychological help, and surgical procedure. The aim is to revive the physique’s pure steadiness of hormones. Some individuals with CAH, together with males with nonclassic CAH, could not want therapy.

CAH is normally handled by a health care provider who focuses on hormonal points, equivalent to an endocrinologist (or pediatric endocrinologist within the case of kids).

Treatment Choices

The physician could prescribe medicines for traditional CAH to assist steadiness out hormones. These embrace:

Mineralocorticoids (fludrocortisone) to interchange aldosterone, which helps counter sodium loss, forestall adrenal crises, and enhance development and growth in kids
Glucocorticoids (dexamethasone, hydrocortisone, prednisolone, prednisone) to interchange cortisol, which helps handle adrenal insufficiency, management androgens, and handle development and growth in childhood
Salt dietary supplements (sodium chloride) to assist retain salt within the physique

Folks with CAH could have to take extra glucocorticoids throughout irritating occasions, equivalent to when sick, injured, or getting surgical procedure. These are referred to as “stress doses” and are given to scale back the danger of adrenal disaster. Often, individuals with nonclassic CAH may additionally want stress doses, for childbirth, main surgical procedure, or trauma.

One remedy, crinecerfont (Crenessity), was authorized by the U.S. Meals and Drug Administration in 2024 to deal with traditional CAH in individuals 4 and older. The remedy works by lowering pituitary stimulation to the adrenal glands, thereby decreasing androgen ranges within the physique and lowering the required dose of glucocorticoids.

Some ladies with nonclassic CAH may additionally be given different remedies, together with:

Corticosteroids, to assist with fertility or lower the danger of miscarriage
Oral contraceptives, to assist regulate intervals and deal with pimples and facial hair
spironolactone (Aldactone), to assist deal with pimples and facial hair

Surgical procedure

Mother and father of ladies born with ambiguous genitalia could go for surgical procedure, particularly if the genitals intrude with the flexibility to urinate. There’s not all the time a “finest” time to have this process: Some dad and mom schedule the surgical procedure in the course of the first 2 to six months of their little one’s life. However many are inspired to delay the choice about surgical procedure and/or statement till the kid is older and could be concerned within the determination.

A multidisciplinary workforce, together with a psychological well being supplier, pediatric endocrinologist, and surgeon, may also help you make the suitable determination to your little one. Any surgical procedure ought to be carried out at a middle that makes a speciality of genitoplasty.