Episode notes
Dr. Rinku Mehra and Dr. Lindsey Waldman of the Endo Kids Podcast explain congenital adrenal hyperplasia (CAH), focusing on classic CAH due to 21-hydroxylase deficiency. They review how CAH is often detected through an abnormal newborn screen and confirmed with bloodwork (including 17-hydroxyprogesterone) and electrolytes, sometimes with genetic testing. They describe CAH as a genetic condition causing low cortisol (and sometimes low aldosterone) with excess androgens, which can lead to salt-wasting, dehydration, vomiting, and ambiguous genitalia in girls while boys may appear normal. They also discuss non-classic CAH presenting later with early puberty signs, acne, excess hair, or irregular periods. Management includes replacing missing hormones with hydrocortisone, sometimes fludrocortisone and salt supplements, monitoring growth, labs, and bone ...