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Annette S (Annette), Undiagnosed Bio

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undiagnosed3

 

43 yr old female- trying to get diagnosed
I have about 41 out of 42 Cushing Symptoms
Have been diagnosed as insulin resistant and as of recent was told I am not insulin resistant
Have had one Dex Suppression test – negative and 2 – 24 hour urine negative
I am at a complete loss- Can I have Cushing’s and these test come back negative?

 

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Jane (Jane), Undiagnosed Bio

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undiagnosed3

 

Hi. I am retired RN in Oklahoma.

I have undifferentiated connective tissue disease, chronic kidney disease and peripheral nerve disease in arms and legs.

I had an autoimmune disease in 1972 called Guillian Barre that left me with residual neuropathy.

Recently my PCP noticed I had hyperpigmentation and thought it might be Cushing’s. My ACTH was in the upper 70s, serum cortisol normal. My weight has been out of control for years.

I did 24 hour urine with normal result. My PCP ordered MRI and showed suspicion for 6 mm adenoma left side of pituitary. Saw endo who ordered 1 mg Dex test. To see neurosurgeon in Dec.

Have also had some severe headaches and intermittent nasea and vomiting (both unusual for me). Also unreasonable emotional outbursts totally out of character for me. If I have Cushings it must be cyclic or subclinical. I haven’t done my Dex test yet because I just don’t know if I should do it when I feel really bad or really good. I’ve felt like my life has been a roller coaster of highs and lows for over a year now.

My endo said if my Dex test is positive she would need to send me to Mayo because she has never dealt with this and there is no one in Oklahoma she can send me to. I have read many bios on this site. It’s crazy how long it takes for people to get diagnosed. Literature says timely diagnosis is so important in relationship to good outcomes. I don’t have the Cushings striae. I do have really bad swelling and pain, fatigue. I’ve been on a daily diuretic for almost 30 years. If I miss it my face and hands swell up and one eye gets red and tears. I feel like my problems began after I had my last child 30 years ago.

Sending good thoughts to all of you out there and what you have and are currently going through. There are lots of heroes here, and even if my problems turn out to be something else, this website has been a life savior. Thanks so much for being there.

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Patricia, Adrenal Bio

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My adrenal incidentaloma was discovered after an abdominal CT in 2011.  My doctor told me that it was insignificant, and no follow up was needed.

Late 2012 I began having symptoms which led me to believe that something hormonal was going on.  I was having extreme anxiety, headaches, insomnia, new onset hypertension, hair loss, blurred vision, memory problems, dizziness, and extremely heavy menses.  I went to the gynecologist because I thought it might be premenopausal symptoms.  The doctor started me on birth control pills to regulate the periods, which was the only symptom that improved.

My general practitioner sent me to a cardiologist for my blood pressure which was spiking as high as 194/110.  The cardiologist immediately suspected a pheo, and referred me back to the GP with a recommendation for a referral to endocrinology.  The initial round of labs were all within normal limits with the exception of plasma cortisol due to the estrogen pills.  The endocrinologist told me to follow up in one year.

A lot of people started telling me it I was just stressed out, and depressed.  I don’t buy it for a minute.  It feels like something chemically is wrong. It’s hard to explain….I just don’t feel right.  Yes, I have stressful things going on, but not anything that should make me feel like this.  Especially when things are fine, and I am going to meet a friend for coffee why on earth would I almost freak out on the way there? I started feeling better for a couple of months, then the symptoms came back.

I have had 3 near panic attacks in the last 6 months, social withdrawal, rapid abdominal weight gain, hospitalized with 24 hours of amnesia (transient global amnesia…which left lesions on my hippocampus), headaches, hypertension, amenorrhea for 8 months, increased facial hair.

My first lab test was the high dose dexamethasone which I did not supress.  Last week I did the 24 hour urine…a whopping 3650 liters!!  I will get the results on Thursday.  My endo said he will need to do an adrenal vein sampling as part of the diagnosis.

Has anyone else had to do this?  I am in Germany, so maybe it is just different protocol here, but I really don’t want to have to do it.

Thanks for any feedback!

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Final Diagnosis: ACTH-dependent Cushing’s syndrome • ectopic ACTH syndrome

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Final Diagnosis: ACTH-dependent Cushing’s syndrome • ectopic ACTH syndrome

Symptoms: Edema • general fatigue • recurrent mechanical fall

Medication: —

Clinical Procedure: —

Specialty: Critical Care Medicine • Endocrinology and Metabolic • Family Medicine • General and Internal Medicine • Nephrology • Oncology

Objective:

Unusual clinical course

Background:

Adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (CS) secondary to an ectopic source is an uncommon condition, accounting for 4–5% of all cases of CS. Refractory hypokalemia can be the presenting feature in patients with ectopic ACTH syndrome (EAS), and is seen in up to 80% of cases. EAS can be rapidly progressive and life-threatening without timely diagnosis and intervention.

Case Report:

We present a case of a 74-year-old White woman who first presented with hypokalemia, refractory to treatment with potassium supplementation and spironolactone. She progressively developed generalized weakness, recurrent falls, bleeding peptic ulcer disease, worsening congestive heart failure, and osteoporotic fracture. A laboratory workup showed hypokalemia, hypernatremia, and primary metabolic alkalosis with respiratory acidosis. Hormonal evaluation showed elevated ACTH, DHEA-S, 24-h urinary free cortisol, and unsuppressed cortisol following an 8 mg dexamethasone suppression test, suggestive of ACTH-dependent CS. CT chest, abdomen, and pelvis, and FDG/PET CT scan showed a 1.4 cm right lung nodule and bilateral adrenal enlargement, confirming the diagnosis of EAS, with a 1.4-cm lung nodule being the likely source of ectopic ACTH secretion. Due to the patient’s advanced age, comorbid conditions, and inability to attend to further evaluation and treatment, her family decided to pursue palliative and hospice care.

Conclusions:

This case illustrates that EAS is a challenging condition and requires a multidisciplinary approach in diagnosis and management, which can be very difficult in resource-limited areas. In addition, a delay in diagnosis and management often results in rapid deterioration of clinical status.

Read more at https://cushings.invisionzone.com/topic/56339-final-diagnosis-acth-dependent-cushing%E2%80%99s-syndrome-%E2%80%A2-ectopic-acth-syndrome/

Amanda, Undiagnosed Bio

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golden-oldie

 

I have been battling sickness for about a year and half now. It started with my gaining weight pretty rapidly (about 20 lbs. in a month-month and a half). I’ve never been super strict about my eating or exercising but I don’t eat a lot of junk food – don’t buy any chips, soda, cookies, etc.) I also do remain pretty active in the work that I do as an elementary teacher. I’ve never had a problem with my weight before and this particular summer I was teaching 3 sections of dance so I was getting plenty of exercise.  I told my family practioner about the weight gain and he told me that metabolism slows down as you age. Ok. I was 26 when he said this and my metabolism must have went down to 0 for me to gaine so fast! I decided to just be more concious of what I ate and did.

As the months went by, I went on a business trip to Boston. During this trip I was inrcedibly fatigued and felt awful. I thought perhaps I was coming down with something and was put on antibiotics that did nothing to help. In August of 2010 I began to have debilitating headaches. I could not get the headache to go away with any over the counter pain reliever and ended up going to a doctor who diagnosed me with migraines. I tried a few migraine medicines with no luck and had a CT scan that showed nothing abnormal. I was then referred to a neurologist.

I mentioned the weight gain to the neuroogist who thought it was odd that I would gain weight so rapidly, but he pretty much dismissed it as a symptom and said I was getting headaches from overuse of medication. I knew that could not be right, but thought I’d try just taking nothing for a while to see if it helped. It did not. The same neurologist then recommended physical therapy, which helped ease the pain but did not take away the headaches. His final thought was that I was depressed and put me on depression medication.

During this time I was working as a teacher and missing work quite often. I felt awful every day. I continued to gain weight, feel fatigued and weak, have mood swings and began developing stretch marks and acne. I always had wonderful skin and it seemed no matter what cleanser I used, I couldn’t control the breakouts.

I saw another neurologist that was recommended by a parent at my school. She scheduled me for an MRI and a lumbar puncture. My pressure came back a little high during the lumbar puncture and the MRI was fine so she diagnosed me with Pseudo Tumer Cerebri. I took medication for this condition, but ended up with no relief.

I ended up spending a week in the hospital because I couldn’t stand the pain in my head and I was so emotional over the whole experience of not having any answers. They pumped me full of pain medication and migraine drugs. At the end of the week when I still had no answers, I ended up going to see a neurologist that was a headache specialist.

The headache specialist diagnosed me with meningitis. No tests but I got a diagnosis based on my story. She put me on steriods. I began to feel better for a few days. I returned to work and thought I had finally found my answer. Then everything came to a screeching halt and I began to feel awful again. The headache specialist was still convinced it was meningitis and said I was just more susceptible to migraines from the meningitis. I again went through a whole gamot of migraine medications to no avail.

I ended up leaving my job and moving close to my family so I could have support and people to help care for me. I returned to my family doctor who decided to do some blood tests. After running the blood tests, my doctor said that my cortisol level was high and I might have cushings which would explain all my symptoms. I had never heard of Cushings so I began researching it. Once I read the symptoms and others’ stories of how they felt and what they went through I was so sure that here FINALLY was my answer. The doctor did a low dose dexamethasone test which came back with normal levels and it was decided I did not have Cushings.

I was devestated. Not that I wanted to have this illness, I just wanted an answer and thought for sure this was it! I even asked my doctor to retest me which she would not do.

I went to see another doctor. I began going through migraine medications again, acupunture, chiropractor, etc. to find some relief. I finally brought the idea of Cushings to this doctor. She ran some blood tests again. Everything came back with normal levels except my potassium was low. Even though my blood didn’t show it, I’m still convinced I have Cushings and my doctor agreed to send me to an endocrinologist.

I have an appointment on Monday with Dr. Findling in Menomenee Falls. I found him on this site as one of the ‘helpful doctors’. I’m hoping that he can finally diagnose me and I can get on the road to recovery.

I miss my life. I’ve lost friends due to this illness. My marriage is suffering. I cannot work. I basically have no life at all because I rarely feel well enough to do anything and no one understands. Not to mention the psychological toll being sick with no answers has on a person as well as watching my body change so much and not being able to do anything to control it! I want an answer and I want to finally know what I can do to help myself get better.

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Deidre (deidre), Undiagnosed bio

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I am a mother of a 20-year-old daughter with suspected Cushing’s.  She was diagnosed with Hashimoto’s disease (with goiter) almost 4 years ago.  Synthroid no help.  Armour keeps TSH levels in range, but symptoms of fatigue, increased weight, etc, etc continue.

Noticed hump at certer top back, at base of her neck, some years ago, but had no idea about Cushing’s.  Four months ago noticed that it was getting quite larger.  Started research of this development, which of course, brought me to Cushing’s.  So many other symptoms line-up with Cushing, including larger midsection/skinner legs, moon face, purple stretch marks on stomach, rapid, unexplained weight gain, extreme mood swings, extreme anxiety, etc.  Great-grandmother, same body shape, died of diabetes.  Grandmother, same body shape, recently diagnosed with diabetes.  Father, same body shape.

When first diagnosed with Hashimoto’s disease, first endocronologist experience was so very, very disappointing.  Prescribed synthroid, which did not work, then decided we should do a thyroidectomy.  No signs of cancer.  Doctor’s husband just happened to preform thyroidectomys.  We did not have this procedure.

Found a general practicioner doctor who prescribed armour, which seemed to help somewhat, at least better than synthroid.  With development of the hump and worry about Cushings, we have found a new endocronologist.  In the last few weeks he has ordered the following tests:

1st test:  Overnight Dexamethasone.  Results:  Cortisol (normal scale of 4.0 to 22 mcg/dl); her levels were at 5.4 mcg.  So she was only slightly abnormal.  Could not rule out Cushings.

2nd test:  24-hour Urine-Free Cortisol Test.  Cortisol (normal scale of 4.0 to 50); her levels were at 42.1 mcg.  Creatinine were slightly elevated at 2.60 g/24h (normal scale of .63 to 2.50).

Based on the results of the follow-up 24-hour urine test, endo states she does not have Cushing’s.  Reading online, I found information that if urine creatinine levels are abnormal, which hers were, this invalidates the 24-hour urine test.  The test should be repeated, right?

What do I do?  Trust this endo?  Or do I ask him to order more tests?  If so, what test?  Should I look for another endo (running out of these in western NC)?

She just has all these physical and emotional markers that hint at something more than Hashimotos.  I certainly do not want her to has Cushings, but, if there is a chance she has this disease, then I want to know now, so we can address it as soon as possible.

Any help on interpreting these tests from people who understand this disease better than me would be so appreciated.

Deidre

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Emily, Undiagnosed Bio

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undiagnosed2

 

Hello, my name is Emily. A few months ago I was “diagnosed” with Cushings Syndrome as I had very high levels of cortisol.

I was sent to a ENDO Dr. & most tests came back saying I have it. But two tests, like the salvia midnight test said the high cortisol dropped a little bit at night which indicates I don’t have it, and the surpression pill test also dropped my cortisol level. But the 24hr urine test and regular blood tests at 8am (done severl times, on different days), says I have extremely high levels of cortisol, which “stumped” the Dr. In the same sentence he told me I have Cushings (on paper), but by looking at me, I don’t have it at all and would be the first case he’s ever seen that had Syndrome but don’t have the physical signs (eg., I don’t have purple stretch marks but have some white stretch marks on legs, I’m average slim build but just recently have gained some* belly midsection weight that I can’t loose, I have only some* facial chin hairs but not a lot yet).

I do have most other symptoms of Cushings including changes in menstrual cycles, night sweats, fatigue, anxiety for no reason and never had problem with that before, have fractured two ribs easily in the last year, weak muscles at times etc. In my initial blood work, it also showed I had no estrogen which the ENDO Dr. didn’t investigate.

My last phone call with ENDO; he basically said it appears I have it on paper, but not by looking at me and therefore his conclusion is I don’t have it, and nothing can be done at this time.

Have any of you on here experienced anything like this? I’m getting a second opinion at the Stanford Hosptial in the Bay Area of California, and driving a good 4 hours to get there. Hoping I get better results.

Also…I’m not a heavy drinker, don’t smoke, never had a problem in past of depression which can also lead to Cushings. I’m 33 years old and although usually healthy, I’ve been experiencing these symptoms for maybe 2 years?? Not as persistent until recently though. What got me to go see a general practioner to begin with was no menstrual cycle at all, or very irregular, nausea at times, night sweats, loosing some hair, breaking out on face, fatigue.

Any help or anyone that went through something similar & can help in knowing what to do, will be greatly appreciated.

Thank you!

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Elara, Undiagnosed Bio

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undiagnosed3

 

I had a low level dexamethasone test done 3 months ago. Not bad. Only 67 mm/ol.

But this time, 3 months later, my blood test showed 367 mm/ol.

I wonder if I have pseudo Cushings due to my daily high alcohol intake or do I have the real thing.

 

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Melissa, Pituitary Bio

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golden-oldie

 

From August 12, 2007

I am 32 yrs old. I started having sxs after my 3rd daughter. I started to have face numbness and weight gain after my hysterectomy in 2004. I have had depression since the birth of my daughter in 2003. I had face swelling on and off.

I had started a diet (Chicken, fish, turkey burger, veggies and rice) February 2007. High in protein and low in sodium. I had gained about 30-40 pds since my daughter but then again it was 3rd child. I had lost 24 pds, but was not loosing in my face, upper body and still looked 4 months pregnant after loosing weight. Within weeks I had hypertension, hair all over my face, swelling redness of face, headaches, etc. Ended up in the ER still with no diagnosis and everything related to stress.

I work at a OB/GYN as a medical assistant so I knew something was wrong. One of the doctors I work with kept saying I had Cushing’s Disease but I kept putting her off. I had read about it in school but wasn’t hearing it. I finally did a 24hr urine and to my surprise it was over 1100.

My life had changed since I was dx with this. I did the 5 day suppression twice, (lab messed up the first one). Did 2 MRI’s.

Finally in July 2007 they finally found it!!! I had surgery done July 18th. Still currently on medical leave. Surgery went so well no bruising on my “moon face”. Levels did not drop as expected next morning but ok. 2 days postoperative they did drop in 1/2. Yah!! I’m cured. Have felt pretty good, just tired. Two weeks did 24hr urine, blood work cortisol, and ACTH. Still producing all three. Repeated 1 week later less dexamethasone even. Guess what still producing all 3 but now increasing.

Doctor’s suggest I go off of the steroids now (no point of being on them) and we are going to do more testing. Possible ectopic has been suggested. The surgeon does not want to do radiation or removal due to my age.

I am ready to get on with my life now, and I am confused. I would love to hear from someone with any advise or just to have someone talk to who is going through this.

 

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Don S (Don S), Undiagnosed Bio

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My name is Don.  I am 35and I am a career firefighter with 14 years on the job.

10 years ago I was injured badly at a fire and almost immediately noticed a change.  My skin began peeling off and I began gaining weight.

I knew about cortisol and its effect on the body because my mother passed away from Cushings at 46 after years of taking steroids for respiratory problems.  My doctors dismissed my issues as stress following the trauma.  My accident happened in March and by July, I had gained  80lbs.  I was constantly fatigued and developed acne all over my body.

A year or so later, I began having stomach issues.  Nausea and Reflux were with me everyday.   I continued to have high serum cortisol throughout the past 10 years but each time, it suppressed to just below the 1.8 threshold with dexamethasone so my doctors just dismissed it as stress.

In 2012, the dizziness and blurry vision began.  My spine is weak and my joints hurt constantly.  My legs are so skinny and weak, they shake when I stand and my heart races from any exertion.  I managed to continue working until a year ago when I accepted that I was putting myself and others at risk.

For the past year I have been paying guys to work for me in order to keep my job and insurance.  I worked hard for this career and promotions and I will not give it up without a diagnosis and confirmation that I can no longer do the job.

I have a new Endo now and she ordered a Urinary Cortisol.  It came back 4X higher than the upper limit.  She is convinced I have Cushings and it isnt just stress.  I have the following symptoms.  Weight gain of over 100lbs, Long purple stretch marks on my flank, side, and groin, Blurry vision, tachycardia, weak limbs, tremors, anxiety, puffy face, dizziness, stomach issues.

I am hoping after 10years of suffering, I may finally have my answer and that I can begin getting my life back.  I have a wife and 3 year old that really count on me and all I have been doing is letting them down.  Our lives are on hold because we do not know what the future will bring.

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