Volume 50, Issue 1–2, January–February 2021

Endocrine and metabolism

Amelia Woods   
doi: 10.31128/AJGP-01-21-1234e   |    Download article
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The ongoing challenge of diagnosing endocrine diseases

All our knowledge has its origins in our perceptions.

– Leonardo Da Vinci1

How could we possibly appreciate the Mona Lisa if Leonardo had written at the bottom of the canvas: ‘The lady is smiling because she is hiding a secret from her lover.’ This would shackle the viewer to reality …

– Stanley Kubrick2


The Mona Lisa has become famous in part because of her enigmatic and ever-shifting smile. Da Vinci’s masterpiece can seem simple, dark and underwhelming when glimpsed between the hundreds of tourists milling around in her gallery at the Louvre. However, on closer inspection, her shifting, impermanent smile and features can be a challenge to interpret. Is she feeling joy, sadness or perhaps even an aversion to her life or surroundings? This ambiguity is achieved through the use of a style named sfumato, defined as ‘the technique of allowing tones and colours to shade gradually into one another, producing softened outlines or hazy forms’.3

In the lead-up to my recent examination for Fellowship of The Royal Australian College of General Practitioners, I approached each patient, real or simulated, with Murtagh’s diagnostic strategy – the probability diagnosis, the serious disorders, possible pitfalls, psychosocial issues and masquerades.4 Masquerades are so named because they can be caused by a hidden illness that may be misconstrued and appear, at face value, to be caused by another condition. In that sense, they may be comparable to the uncertainties surrounding Mona Lisa’s smile.

Thyroid and other endocrine illnesses are listed as one of the seven primary masquerades. Their presentation can easily be missed, in part because the symptoms are often non-specific and blend in with those from a range of alternative diagnostic options. While this fluidity of presentations makes these conditions difficult to diagnose, uncertainty also encourages a broader consideration of context. For example, if exploring the history of a woman aged 45 years who presents with tremors and anxiety, apart from consideration of hyperthyroidism, the conversation lends itself to a discussion about her recent life stressors and their impact on her mental health and social connections.

In this month’s issue of Australian Journal of General Practice, we explore a range of endocrine diseases that can be difficult to diagnose due to the oftentimes-vague symptoms. Articles include discussions of Paget’s disease by Cook and Wall,5 pituitary disease by Inder and Jang,6 adrenal disease by Libianto, Yang and Fuller,7 and two articles on thyroid disease by Hughes and Eastman,8 and Croker, McGrath and Rowe.9

The identification of hidden illnesses that present with vague symptoms remains an ongoing challenge for all clinicians. Fortunately, general practitioners have a unique advantage in this task as a result of their in-depth and longitudinal clinical relationships with their patients.

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  2. IMDb. Stanley Kubrick: Quotes. Seattle, WA: Amazon, 2020. Available at [Accessed 14 December 2020]. Search PubMed
  3. Lexico. Sfumato. Oxford, UK: Oxford University Press, 2020. Available at [Accessed 14 December 2020]. Search PubMed
  4. Murtagh J, Rosenblatt J, Coleman J, Murtagh, C. John Murtagh’s General Practice. 7th edn. Sydney, NSW: McGraw-Hill, 2000. Search PubMed
  5. Cook SJ, Wall C. Paget’s disease of bone: A clinical update. Aust J Gen Pract 2021:50(1–2):23–29. Search PubMed
  6. Inder W, Jang C. Pituitary disease: An update. Aust J Gen Pract 2021:50(1–2):30–35. Search PubMed
  7. Libianto R, Yang J, Fuller PJ. Adrenal disease: An update. Aust J Gen Pract 2021:50(1–2):9–14. Search PubMed
  8. Hughes K, Eastman C. Thyroid disease: Long term management of hyperthyroidism and hypothyroidism. Aust J Gen Pract 2021:50(1–2):36–42. Search PubMed
  9. Croker EE, McGrath SA, Rowe CW. Thyroid disease: Using diagnostic tools effectively. Aust J Gen Pract 2021:50(1–2):16–21. Search PubMed

Endocrine diseaseGeneral practiceGeneral practitioners

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