Paediatrics: McCune-Albright Syndrome: Free MSRA Podcast

⚕️ FREE MSRA PODCAST – McCune-Albright Syndrome🎧 A clear, high-yield breakdown of this rare, triad-based paediatric syndrome – perfect for exam prep and real-life clinical scenarios.🧠 Key Learning Points📌 Definition• McCune-Albright Syndrome (MAS) is a rare, non-inherited genetic disorder caused by a post-zygotic mutation in the GNAS gene, leading to a classic triad: polyostotic fibrous dysplasia, café-au-lait skin spots, and autonomous endocrine hyperfunction.📌 Causes & Risk Factors• Sporadic post-zygotic mutation (not inherited) in the GNAS gene• No known preventable risk factors; mutation occurs randomly after conception• More commonly recognised in girls due to earlier, more obvious signs (e.g. precocious puberty)📌 Pathophysiology• GNAS gene mutation causes constitutive activation of G protein signalling• Mosaicism (mutation only present in a proportion of cells) explains the patchy, varied features• Leads to abnormal bone formation, pigment changes, and excessive hormone production📌 Symptoms• Triad: – Polyostotic fibrous dysplasia: weak, deformed bones, fractures, limb-length discrepancy, scoliosis – Café-au-lait skin pigmentation: large, irregular (“coast of Maine”) patches – Autonomous endocrine hyperfunction: gonadotrophin-independent precocious puberty, hyperthyroidism, Cushing’s, acromegaly, etc• May also present with short stature (due to early epiphyseal fusion), myxomas, and goitresMnemonic: “BONES, SPOTS, HORMONES”📌 Differential Diagnosis• Neurofibromatosis type 1 (distinguished by multiple, smooth-bordered “coast of California” café-au-lait spots)• Osteofibrous dysplasia• Central precocious puberty• Osteogenesis imperfecta• Ovarian/adrenal tumours (if presenting with early puberty)📌 Diagnosis• Genetic testing for GNAS mutation (in affected tissue, may be negative in blood due to mosaicism)• Imaging: X-ray, bone scan, MRI for extent of bone disease• Hormonal panel tailored to presentation (LH, FSH, oestradiol/testosterone, thyroid function, cortisol, growth hormone)• Biopsy only if suspicion of malignancy or rapidly enlarging lesions📌 Management• Multidisciplinary team (endocrinology, orthopaedics, genetics, physio)• Bone: Bisphosphonates for pain/fracture risk, orthopaedic surgery for deformities/fractures• Endocrine: Direct hormone blockers (e.g., aromatase inhibitors, tamoxifen) – GnRH agonists do NOT work for MAS puberty• Skin/myxomas: Monitoring and supportive care• Psychological support and lifelong follow-up📌 Complications• Bone deformities, fractures, scoliosis• Cranial nerve compression (if skull involved) → vision/hearing loss• Early epiphyseal closure → short stature• Osteomyelitis, pseudoarthrosis• Malignancy risk: osteosarcoma, breast cancer (esp. in females)• Hypophosphataemic rickets, perioperative sudden death risk (rare)📌 Prognosis• Variable: Depends on extent of mosaicism & organs affected• Normal lifespan for most, but significant morbidity possible from fractures, deformity, and endocrine complications• Lifelong monitoring and support required📎 More MSRA Resources for McCune-Albright Syndrome📝 Revision Notes: https://www.passthemsra.com/topic/mccune-albright-syndrome-revision-notes/🧠 Flashcards: https://www.passthemsra.com/topic/mccune-albright-syndrome-flashcards/💬 Accordion Q&A Notes: https://www.passthemsra.com/topic/mccune-albright-syndrome-accordion-qa-notes/🚀 Rapid Quiz: https://www.passthemsra.com/topic/mccune-albright-syndrome-rapid-quiz/🎓 Full Course: https://www.passthemsra.com/courses/paediatrics-for-the-msra/#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQ&ANotes #MSRAAccordions #MultiSpecialityRecruitmentAssessment #MSRAOnlineRevision #MSRARevisionWebsite #Paediatrics #McCuneAlbrightSyndrome