Moon Facies: Possible Causes and Diagnostic Approaches

Q: Moon Facies: Possible Causes and Diagnostic Approaches

Hello Mr. <br>Kobayashi： <br>1. <br>Regarding kidney diseases, blood tests and urinalysis can be used for screening, and sometimes additional imaging studies such as ultrasound may be performed to assist in diagnosis and treatment. <br>If, as you mentioned, you only have kidney s

What diseases can cause an unusually round and swollen face (similar to a full moon face)?

I am a 22-year-old male, and recently while organizing old photos, I noticed that my face appears disproportionately swollen compared to my BMI.
I am 175 cm tall and weigh 80 kg.
I collected photos of other males who are also 175 cm tall and realized that my facial swelling resembles that of a 175 cm male weighing 110 kg, although my limbs do not show any roundness or edema.
A moon face is typically associated with steroid use, but I have never taken any supplements, and my diet consists of regular market food.
Additionally, I have moved eight times throughout my life, which rules out environmental exposure to steroids.

I researched online and found that central obesity could be caused by Cushing's syndrome, but I do not have any purple striae on my abdomen, just slight overweight without obesity.
My skin is not thin, and I do not experience easy flushing.
My blood pressure is 120/88, which is still within the normal range, although the diastolic pressure of 88 is slightly elevated.
My blood sugar levels are consistently normal, and my kidney function tests (BUN, creatinine, uric acid) show only slightly elevated uric acid levels.
I have had occasional urinary issues since childhood.

From old photos, I can trace the onset of my moon face to the following medical history:
- At age 5, my face matched my BMI, and I did not have a moon face.
- In first grade, I experienced painful urination, and a local clinic diagnosed it as urethritis, which resolved after one course of medication.
However, a doctor at age 18 believed that the short male urethra would make inflammation unlikely.
- In second grade, I had a moon face, but I was a skinny child, and my facial swelling was disproportionate to my BMI; I had no physical discomfort at that time.
- In third grade, I had visible hematuria without fever or discomfort, which resolved naturally after four days.
Over the years, I have had very few urine tests, and I have never been informed of microscopic hematuria or occult blood.
- At age 18, I was diagnosed with kidney stones and underwent extracorporeal shock wave lithotripsy.
Subsequent 24-hour creatinine clearance tests showed my kidney function at 85% of normal, which is still acceptable.
I have the following questions:
1.
I have seen five internists recently, and all blood and urine tests for kidney function came back normal, and they advised me to go home since there is currently no condition requiring treatment.
However, this does not help identify the underlying cause.
It seems that my childhood urinary issues may be related.
What other common diseases should I consider?
2.
I suspect Cushing's syndrome, but I only have the moon face without other matching symptoms.
3.
I have had regular kidney ultrasounds, all of which have been normal.
What additional tests or blood work do you recommend to determine the cause of my moon face?

Xiao Lin, 20~29 year old female. Ask Date: 2013/12/21

Dr. Huang Yaoxuan reply Internal Medicine

Hello Mr.
Kobayashi:
1.
Regarding kidney diseases, blood tests and urinalysis can be used for screening, and sometimes additional imaging studies such as ultrasound may be performed to assist in diagnosis and treatment.
If, as you mentioned, you only have kidney stones (and elevated uric acid), then there is no need to worry about any abnormalities in kidney function (this situation is usually not related to a round face).

2.
As for Cushing's syndrome, you can inquire about the details with an endocrinologist.

3.
In terms of differential diagnosis for a "round face," aside from edema, I am not very clear on other possibilities.
I would recommend consulting with an endocrinologist, as they may have a better understanding.

Reply Date: 2013/12/21

More Info

Moon facies, characterized by a rounded facial appearance, can be a significant clinical sign associated with various underlying conditions. In your case, the observation of facial swelling in conjunction with your BMI and other health parameters raises several important considerations.
1. Cushing's Syndrome: As you mentioned, Cushing's syndrome is a common cause of moon facies. It results from prolonged exposure to elevated cortisol levels, which can be due to various factors such as pituitary adenomas (Cushing's disease), adrenal tumors, or ectopic ACTH production. While you do not exhibit some classic symptoms such as abdominal striae, easy bruising, or skin changes, it is still worth investigating further. A 24-hour urinary free cortisol test, late-night salivary cortisol test, or low-dose dexamethasone suppression test can help confirm or rule out Cushing's syndrome.

2. Other Endocrine Disorders: Other endocrine disorders, such as hypothyroidism or hyperthyroidism, can also lead to changes in facial appearance. Thyroid function tests (TSH, Free T4, and Free T3) could be beneficial in ruling out these conditions.

3. Genetic Conditions: Certain genetic syndromes, such as Prader-Willi syndrome or other metabolic disorders, can lead to abnormal fat distribution and facial features. A genetic consultation may be warranted if other causes are ruled out.

4. Kidney Function and Urological History: Given your history of urinary issues and kidney stones, it is essential to consider whether there is an underlying renal condition contributing to your symptoms. While your kidney function tests are currently normal, conditions such as nephrotic syndrome can lead to facial swelling due to fluid retention. A urinalysis, including a microscopic examination, could help identify any subtle abnormalities that may have been missed previously.

5. Lifestyle Factors: Diet and lifestyle can also play a role in facial appearance. High sodium intake, dehydration, or other dietary factors can lead to temporary facial swelling. A review of your dietary habits and lifestyle changes may provide insights.

6. Imaging Studies: While you mentioned that renal ultrasounds have been normal, further imaging studies such as a CT scan of the abdomen or MRI of the pituitary gland could be considered if Cushing's syndrome or other structural abnormalities are suspected.

7. Consultation with Specialists: Given the complexity of your symptoms and history, it may be beneficial to consult with an endocrinologist who specializes in hormonal disorders. They can provide a more focused approach to diagnosing conditions like Cushing's syndrome or other endocrine abnormalities.

In summary, while moon facies can be indicative of Cushing's syndrome, it is essential to consider a broader differential diagnosis that includes other endocrine disorders, genetic conditions, and potential renal issues. Further testing, including hormonal assays and possibly imaging studies, will be crucial in identifying the underlying cause of your symptoms. It is important to continue working closely with your healthcare providers to ensure a thorough evaluation and appropriate management.

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