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Turner syndrome 🧬
For education and revision only. Check current NICE/BNF, specialist guidance and local NHS policy before clinical use. Newly added V19 material has not received independent clinical sign-off.
Turner syndrome is complete or mosaic loss of one X chromosome in a phenotypic female (classically 45,X), with variable presentation and important lifelong cardiovascular risks.
Recognise
- Short stature, primary ovarian insufficiency/delayed puberty, broad chest, webbed neck or neonatal lymphoedema; none is obligatory.
- Screen for bicuspid aortic valve and aortic dilatation, hypertension, renal anomalies, hearing impairment and autoimmune thyroid disease.
Assessment and follow-up
- Chromosomal analysis confirms the diagnosis; mosaicism may require appropriate additional testing.
- Refer to paediatric/adult endocrinology and congenital cardiology; pregnancy requires pre-conception expert aortic risk assessment.
- Growth, pubertal induction, bone health and fertility counselling are multidisciplinary decisions.
Clinical reasoning: Short stature with amenorrhoea is a clue, but an apparently normal adult can still have an undetected aortic abnormality.
UK sources / further reading: NHS Genomic Test Directory
| The content on this website is provided for educational and informational purposes only to support exam preparation (e.g., MLA, MRCP, USMLE) and learning. This is NOT medical advice, diagnosis, treatment, or professional guidance. It does not replace consultation with a qualified healthcare professional, official guidelines (e.g., NICE, GMC, BNF), or supervised clinical practice. Always verify information with current, authoritative sources. Makindo and its contributors accept no liability for any reliance on this content, including errors, omissions, or any resulting harm, loss, or consequences. By using this site, you agree to these terms. |
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