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Dr Basu
Dr Basu, Experienced Specialist
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What condition might cause this? I have dysphagia, food

Customer Question

What condition might cause this? I have dysphagia, food intolerance causing a very limited diet, environmental sensitivities, weakness, and vaginal swelling. Below are the blood results that were off. Any idea what condition(s) might be doing this?
11-Deoxycortisol <=32.00 ng/dL 70.50 H
Androstenedione 0.5 - 3.0 ng/mL 3.3 H
Hydroxyprogesterone Follicular 10-80 ng/dL. Luteal 90-300 ng/dL. 983.2 H
Anti Mullerian Hormone 0.176 - 11.705 ng/mL 15.931 H
Creatinine 0.70 - 1.40 mg/dL 0.55 L
Anion Gap 0 - 15 mmol/L 17 H
Polyclonal Hypergammaglobulinemia Protein Electrophoresis Serum x
Small Monocolonal Protein cannot be ruled out Immunofixation Serum x
Total Protein Protein Electrophoresis Serum 8.1 H
A2 Glob Protein Electrophoresis Serum 1.2 H
Gamma Glob Protein Electrophoresis Serum 1.7 H
Alternaria Alternaria .94 H
IGG Subclass 2 766 H
Light Chains Absolute value of kappa FLC
was normal at 6.40 and her lambda FLC absolute value was low at 1.33 L
Cortisol Reductase Deficiency I Flagged via GeneDx; follow up being run now
Submitted: 11 months ago.
Category: Medical
Expert:  Dr Basu replied 11 months ago.

Hi there,
This is Dr Basu, experienced Internal Medicine Specialist.
I am here to address your concerns and provide great service.

You likely have congenital adrenal hyperplasia.

You have 17 hydroxylase hormone deficiency in adrenals and gonads.

This causes excess 11 deoxycortisol, progesterone and low estrogen, cortisol.

This can be seen in chromosomal abnormalities as well.

Symptoms can be hypertension., lack of menstruation, lack of secondary sexual characters, infertility.

You do have abnormal protein production in the body --can be plasma cell disorder --but likely not multiple myeloma or something very serious.

Swallowing difficulty will require endoscopy, barium swallow and a biopsy of the esophageal lining.

This is to rule out autoimmune condition like systemic sclerosis.

Best wishes,
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Customer: replied 11 months ago.
Thanks for your help. I've recently had a genetic test that ruled out Adrenal Hyperplasia (GeneDx). What specific conditions would you suggest asking my local doctors to check into? This is an overview of what I'm experiencing:Chief Concerns: Quality of life affected by medical issues1) Reactivity/dysphagia with most foods. Extremely limited diet
2) Vaginal swelling
3) Abnormal Hematology labsNarrative: I experience dysphagia with many foods. My throat feels like something is stuck in it/hard to swallow; inflammation continues for a few days. With many foods, I have flushing, mouth swelling, stomach cramping, and diarrhea. I’m down to eating six ingredients: Milk, Eggs, Flour, Butter, Sugar, and Baking Soda. Environmental sensitives have increased (beach swells feet, dental cleanings swell mouth).I have painful vaginal swelling after sex, gynecological exams and so forth. It persists for weeks—I can no longer have sex as the swelling is too bad after. Most of these problems appeared around the same time period (1999-2001).
Expert:  Dr Basu replied 11 months ago.

Do you get period?

have you ever been pregnant before?

Your GI symptoms and vaginal swelling suggest autoimmune disorder.

It is better to see a gastroenterologist first.

You will need upper endoscopy and a colonoscopy as well.

Regarding vaginal symptoms, likely related to estrogen deficiency.

Hence, estrogen treatment may be helpful.

You should also consult with an endocrinologist.

Best wishes

Customer: replied 11 months ago.
Good question! I get periods about twice per year (they started at 15, I'm 35). My estrogen is perfect, endometrial stripe is healthy etc. I have never been pregnant. I'm 5'6 and 109lbs. Are there any specific autoimmune disorders that I should have my doctor look into? Also, could this be a neuro condition? (They've been stumped and we're trying to get some ideas).
Expert:  Dr Basu replied 11 months ago.

Have you tried to become pregnant before?

Lack of monthly period and no pregnancy do suggest 17 hydroxylase deficiency as I specified earlier.

Systemic sclerosis is one autoimmune condition that can affect the GI tract causing swallowing problem and also digestion issues.

That is why I recommended endoscopies and biopsies from esophagus at least.

Best wishes,
It was my pleasure to help you today.
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