Episode 24: Congenital Adrenal Hyperplasia (CAH) in Children: Symptoms, Diagnosis & Treatment Explained

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 age, and using stress-dose steroids during significant illness or injury.00:00 Welcome to Endo Kids01:06 Episode Topic CAH01:25 Newborn Screen Call03:04 What Is CAH05:02 Why It Happens06:37 Types and Severity08:21 Symptoms and Signs10:13 Testing and Diagnosis11:42 Treatment Basics12:49 Follow Up and Monitoring13:21 Stress Dosing Plan15:01 Living Well With CAH16:22 Wrap Up and ResourcesMedical Disclaimer:The information shared on The Endo Kids Podcast is for educational purposes only and does not constitute medical advice. Listening to this podcast does not establish a doctor-patient relationship. Please consult your child’s healthcare provider for personalized medical guidance.