USMLE/COMLEX - Step 2 - Congenital Adrenal Hyperplasia

USMLE/COMLEX - Step 2 - Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal gland's ability to produce hormones. CAH is caused by gene mutations that encode cortisol and aldosterone synthesis enzymes. The enzyme deficiency leads to impaired cortisol synthesis, resulting in an overproduction of androgens that cause virilization, which can result in ambiguous genitalia in females and early onset of puberty in males. Depending on the type and severity of CAH, aldosterone production may also be impaired, leading to salt wasting and electrolyte imbalances. If left untreated, CAH can lead to complications such as adrenal crisis and infertility. Ambiguous genitalia in females Early onset of puberty in males Excessive hair growth Acne Irregular periods or amenorrhea in females Infertility Salt wasting and dehydration Low blood pressure Hypoglycemia Life threatening adrenal crisis Ambiguous genitalia in females Early onset of puberty in males Hyperpigmentation Excessive hair growth Salt wasting and dehydration Newborn screening Hormone level tests ACTH stimulation test Genetic testing Imaging tests Congenital Adrenal Hyperplasia (CAH) treatment involves hormone replacement therapy and close monitoring of hormone levels and electrolyte balance. The goal of treatment is to replace deficient hormones and prevent complications. Here are some common treatments for CAH: 1. Glucocorticoid therapy: This involves replacing deficient cortisol levels with synthetic glucocorticoids, such as hydrocortisone, prednisolone, or dexamethasone. This therapy helps to suppress ACTH production, reduce androgen production, and maintain normal salt and water balance. 2. Mineralocorticoid therapy: Aldosterone replacement may also be necessary, depending on the type and severity of CAH. This therapy involves taking a synthetic mineralocorticoid, such as fludrocortisone, to maintain normal salt and water balance. 3. Salt supplementation: For patients with salt-wasting CAH, additional salt supplementation may be necessary to maintain normal electrolyte balance. 4. Surgery: In some cases, surgery may be necessary to correct genital abnormalities, such as clitoral enlargement or undescended testes. 5. Regular monitoring: Patients with CAH require regular hormone levels, electrolyte balance, and bone density monitoring to adjust treatment as necessary and prevent long-term complications.