Case Study: 

Patient Profile:

• Name: Sarah
• Age: 35
• Gender: Female
• Medical History: No known significant medical conditions before the onset of symptoms.
• Presenting Complaints: Rapid weight gain, facial rounding, muscle weakness, hypertension, and easy bruising.

• Case Presentation:

Sarah, a 35-year-old woman, presented to her primary care physician with a constellation of symptoms that had progressively worsened over the past year. She reported rapid and unexplained weight gain, particularly around her abdomen and face. She also noted the development of a “moon face” and easy bruising. Sarah had a history of mild hypertension but had never required antihypertensive medications until recently. She complained of muscle weakness and fatigue, which had significantly impacted her daily life and work.

• Initial Assessment:

During her physical examination, her physician observed the classic signs of Cushing’s syndrome, including central obesity, buffalo hump (fat accumulation on the upper back and neck), and purple striae (stretch marks). Her blood pressure was elevated (160/100 mm Hg), and her skin was thin and fragile, explaining the easy bruising. Her primary care physician suspected Cushing’s syndrome and referred her to an endocrinologist for further evaluation.

• Endocrinological Evaluation:

The endocrinologist ordered a battery of tests to confirm the diagnosis of Cushing’s syndrome. Initial blood work showed elevated levels of cortisol in the early morning (8:00 AM), which is consistent with the normal circadian rhythm of cortisol secretion. However, further tests, including a 24-hour urine free cortisol test, a midnight salivary cortisol test, and a low-dose dexamethasone suppression test, were all abnormal, confirming the presence of hypercortisolism.

Imaging studies, including a high-resolution pituitary MRI and a CT scan of the abdomen, were performed to determine the cause of the excess cortisol production. These scans revealed a small pituitary adenoma (approximately 6 mm in diameter) in the left side of the pituitary gland, suggesting Cushing’s disease as the underlying cause of the syndrome. However, further evaluation was necessary to rule out other potential causes.

• Role of Endothelin:

Recent research had highlighted the role of endothelin in the pathophysiology of Cushing’s syndrome. Given Sarah’s hypertension and the potential impact of endothelin on vascular dysfunction in Cushing’s, the endocrinologist decided to measure her endothelin-1 (ET-1) levels. Results indicated elevated levels of ET-1, supporting the growing body of evidence implicating endothelin in the syndrome’s development and progression.

• Treatment Plan:

Sarah’s treatment plan was developed in a multidisciplinary fashion, involving an endocrinologist, a neurosurgeon, and a cardiologist due to her hypertension. The treatment plan consisted of the following steps:

• Surgical Intervention: Given the presence of a pituitary adenoma, Sarah underwent transsphenoidal pituitary surgery to remove the tumor. This procedure aimed to normalize cortisol production and alleviate the primary cause of her Cushing’s syndrome.
• Blood Pressure Management: The cardiologist prescribed antihypertensive medications to control her blood pressure while monitoring for endothelin-related vascular complications. Lifestyle modifications, including dietary changes and increased physical activity, were also recommended to complement the medical treatment.
• Endothelin-Targeted Therapy: In light of the elevated ET-1 levels and the potential implications for vascular health, the patient’s response to endothelin receptor antagonists was closely monitored. These medications were considered as adjunct therapy to address hypertension and mitigate endothelin-related vascular dysfunction.
• Follow-Up and Monitoring: Sarah was scheduled for regular follow-up appointments to assess her cortisol levels, blood pressure, and any potential complications associated with endothelin-related vascular changes. Ongoing collaboration among her healthcare providers ensured a comprehensive approach to her care.

• Outcome:

Following pituitary surgery, Sarah’s cortisol levels gradually normalized, and her Cushing’s syndrome symptoms improved over time. Her blood pressure responded well to antihypertensive medications and lifestyle modifications. Endothelin-targeted therapy was not deemed necessary at this stage, as her vascular function improved along with cortisol reduction.

• Conclusion:

This case study illustrates the importance of considering endothelin in the evaluation and management of Cushing’s syndrome, particularly when hypertension is a prominent feature. Multidisciplinary care and a personalized treatment approach, including surgical intervention, blood pressure management, and potential endothelin-targeted therapy, can lead to successful outcomes for individuals like Sarah who are affected by this complex endocrine disorder.

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