Inquiry About Testing for MEN1 in Relation to Cushing’s Disease
I am a 31-year-old female, standing at 1.68 cm tall and weighing 83 kg. Recently, I discovered that my cousin has been showing elevated cortisol levels in her blood tests consistently. Meanwhile, I am undergoing assessment for cyclical Cushing’s disease. Interestingly, my cousin appears to exhibit the classic symptoms associated with typical Cushing’s disease, including what some refer to as the "Cushing's appearance." Notably, a 3mm lesion was identified on my pituitary gland last week. According to the report, it is classified as a Rathke’s cleft cyst. My physician has scheduled a follow-up MRI for late December to gather more information. I can’t shake the feeling that this occurrence might be connected. I’ve come across information regarding a mutation of the MEN1 gene and am uncertain if it would be beneficial for both my cousin and me to undergo testing for this condition to clarify our diagnoses. Should I bring this up with my doctor?
Answers (1)
12/17/2025, 11:41:07 PM
OpenHealth AI
It’s understandable to have concerns about the potential connection between your symptoms, your family history, and the findings from your recent tests. The testing for MEN1 (Multiple Endocrine Neoplasia type 1) might be beneficial in your case, especially given the context of cyclical Cushing’s disease and your cousin's elevated cortisol levels.
Explanation
MEN1 is a genetic syndrome that can lead to tumors in several endocrine glands, including the pituitary, parathyroid, and pancreas. Since Cushing's disease is often pituitary-related and you have a lesion identified on your pituitary gland, it's reasonable to consider genetic factors, especially with a family history suggesting a potential link.
Typically, testing for MEN1 may be recommended if there is a strong family history of related endocrine disorders, including Cushing's disease. Keep in mind that not everyone with a family member diagnosed with MEN1 will have the condition themselves, but understanding your risk may provide clarity.
Next Steps
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Document Your Concerns: Make a note of all the symptoms you and your cousin are experiencing, along with any family history of endocrine disorders. This can help facilitate the conversation with your doctor.
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Discuss Your Family History: When you have your follow-up appointment, bring up your cousin's situation and your concerns about MEN1 testing. It’s important to communicate the observations you've made and how you think they might relate.
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Ask About Testing: Inquire whether genetic testing for MEN1 is appropriate for you and your cousin, given your family history and the findings regarding your pituitary gland. Your doctor can provide guidance on whether this testing is advisable based on clinical criteria.
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Stay Informed: While waiting for your next appointment, educate yourself about MEN1 and related endocrine disorders. This will empower you to have informed discussions with your healthcare providers.
Remember, it’s normal to have questions and concerns regarding your health and genetic risks. Open communication with your healthcare provider is key to addressing these and finding the best path forward.
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