Episode
Turner Syndrome Session 2. The 15-Year Diagnosis Delay: New Epidemiological Data on Turner Syndrome
- Published
- Apr 19, 2026
- Duration seconds
- 4048
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Summary
In this General Practice podcast , we are joined by Professor Claus Gravholt, a leading international authority on Turner syndrome, to discuss critical new epidemiological and genomic findings. This episode challenges the assumption that Turner syndrome is exclusively a pediatric diagnosis. Surprisingly, the median age of diagnosis is 15 years old, with many females diagnosed late in adulthood or not at all. Professor Gravholt highlights the "pre-diagnosis phenotype," revealing that patients often present to primary care with elevated endocrine conditions and cardiovascular medication use long before receiving a formal diagnosis. We dive deep into the untangling of Turner syndrome genomics, exploring how subtle DNA methylation changes lead to accelerated biological aging and chronic, low-grade neutrophil-driven inflammation. The episode also covers vital medical issues GPs frequently encounter, such as managing early-onset hypertension and recognizing the vastly increased frequency of hearing loss. Finally, Professor Gravholt argues for liberal, individualized Hormone Replacement Therapy (HRT) to protect long-term metabolic and cardiovascular health, and emphasizes the urgent need to refer patients to specialized adult clinics to reduce lifelong morbidity. ------------------------------------------------------------------------------- If you are a General Practitioner who gets invited to dozens of webinars a month. The General Practice Clinical Sessions Podcast is designed for you. Instead of giving up an evening with your family for a live webinar or your weekend for a conference, you can listen to it here whenever it's convenient, in half the time and while you are commuting, exercising or even walking the dog. It's the same education, without interrupting your life.…