Endo: Congenital Adrenal Hyperplasia: Free MSRA Podcast

🎧 FREE MSRA PODCAST – Congenital Adrenal Hyperplasia:Decode the Hormone ChaosIn this high-yielddeep dive, we break down Congenital AdrenalHyperplasia (CAH) – a complex but crucial endocrinology condition youmust know for the MSRA exam. We simplifythe pathophysiology, unpack the classic presentations, and explore clearmanagement plans with UK NICE-aligned revisioncontent. 🧠 Key Learning Points 📌 Definition• CAH = A group of autosomalrecessive genetic disorders affecting adrenal steroidogenesis• Most commonlycaused by 21-hydroxylase deficiency(>90% cases) 📌 Aetiology & Pathophysiology• Mutation in CYP21A2 gene → impaired cortisol ± aldosteroneproduction• Precursors shuntedto androgen pathway → androgen excess• Feedback loop disruption: ↓ cortisol → ↑ ACTH →adrenal hyperplasia• Thermostat Analogy: Faulty furnace (enzymedefect) → thermostat (pituitary) keeps turning up ACTH → excess androgens,enlarged glands 📌 Types of CAH• Classic – Salt-wasting (severe,life-threatening): – Electrolytedisturbances, vomiting, failure to thrive• Classic – Simple virilising: – Virilisationwithout salt loss• Non-classical (late onset, mild): – May present inadolescence/adulthood with acne, hirsutism, menstrual irregularities 📌 Symptoms by Type & Age• Neonates (females): Ambiguous genitalia• Neonates (males): Hyperpigmentation, risk ofadrenal crisis• Children: Early pubic hair (adrenarche), acne,tall stature but short final height• Adolescents/adults: Hirsutism, menstrualproblems (females), infertility, early beard growth (males) 📌 Diagnosis• Key marker: ↑ 17-hydroxyprogesterone(17-OHP)• ACTH stimulationtest: exaggerated 17-OHP rise, poor cortisol response• Genetic testing to confirm diagnosis and enzymeinvolved• Newborn screening: Available in some countries– detects classic CAH early• Imaging: Pelvic US (in ambiguous genitalia),adrenal imaging if needed• Bone age X-ray: Advanced in early puberty• Karyotyping: To determine chromosomal sex inambiguous genitalia cases 📌 Management🔹 Hormone Replacement• Hydrocortisone (children) / Prednisolone/Dexamethasone (adults) forcortisol replacement• Fludrocortisone if aldosterone-deficient• Salt supplements in infants with salt-wastingCAH🔹 Monitoring & Adjustment• Monitor growth,bone age, and hormone levels regularly• Stress dosing:increase glucocorticoids during illness, injury, or surgery 🧠 Mnemonic: "Stress needs more steroid"🔹 Additional Treatments• GnRH analogues for central precocious puberty• Oral contraceptives / Spironolactone forsymptom control in non-classical CAH• Psychological support and MDT input essential for lifelong care🔹 Surgery• Consideredcase-by-case for ambiguous genitalia• Adrenalectomy very rare – reserved for extremecases 📌 Complications• Adrenal crises• Short stature• Infertility (especially in classical CAH)• PCOS-like symptoms, precocious puberty, cardiometabolicrisks• Testicular adrenal rest tumours (TARTs) inmales• Psychologicalimpacts – vital to address 📎 MSRA-Specific Takeaways• Focus on 21-hydroxylase deficiency – most tested• Remember classic vs non-classic distinction• Know the signs of salt-wasting crisis in neonates• Understand the diagnostic value of 17-OHP and the ACTH stimulation test 📝 MSRA Resources on CAH• Revision Notes:https://www.passthemsra.com/topic/congenital-adrenal-hyperplasia-revision-notes/• Flashcards:https://www.passthemsra.com/topic/congenital-adrenal-hyperplasia-flashcards/• Accordion Q&A Notes:https://www.passthemsra.com/topic/congenital-adrenal-hyperplasia-accordion-qa-notes/• Rapid Fire Quiz:https://www.passthemsra.com/topic/congenital-adrenal-hyperplasia-rapid-quiz/ Hashtags#MSRA#CongenitalAdrenalHyperplasia #CAH #MSRAFlashcards #MSRAQuiz #MSRARevision#Endocrinology #SteroidHormones #AdrenalCrisis #Pediatrics #MedicalEducation#MSRAExam #MultiSpecialtyRecruitmentAssessment