My name is Jože (29 years old). I live in Ljubljana, capital town of Slovenia (small country in Central Europe; part of European Union). I was diagnosed with a Cushing´s syndrome in March 2003 after a longer period of typical symptoms that presented already a year before that (weight gain, red stretch marks-striae, round face). I had problems with my eye-sight where I still sometimes see some strange patterns which grow and disappear after approx. half an hour. I also noticed acne all over the body (shoulders, back, buttocks, and thighs) which was previously suspected Darriers disease but these disappeared and only occasionally turn up again. Other symptoms that developed later were severe hypokalemia, osteoporosis (lumbar spine cord), mood problems (depression, fear, anxiety, sleeping disorder), pain in the lumbar region, dry skin, swollen ankles, thirst, dry mouth, frequent urination over the night, fast and hard heartbeat, muscle weakness. I also had strong tachycardia 6 times till now.

Since March 2003 I've been hospitalized many times in University Medical Center (Endocrinology) in Ljubljana with purpose to locate the source of excessive ACTH secretion. Next examinations were done in order to localize the ectopic source of ACTH and some of them have been repeated several times: RTG-X rays (chest, abdomen), US-ultrasound (thyroid, abdomen), MRI- magnetic resonance imaging (head, adrenal glands, whole body), CT (thorax, abdomen), whole body scintigraphy with 99m Tc and 111-In octreoctide, whole body catheterization-selective blood sampling (slight increase of ACTH level was present in the sample from vena cava inferior). In December 2003 I also underwent a PET-positron emission tomography scan in Sweden (because there are no PET centers in Slovenia) at Uppsala University Hospital with a tracer 11-C 5-HTP. This study was repeated in January 2006.

I'm taking medications Metopirone (metyrapon) and Oronazol (ketokonazol) to suppress cortisol. Because of hypokalemia and sometimes elevated blood pressure I take Aldactone (spirinolactonum). Most of the symptoms improved but have not totally disappeared with medication and I feel strong side effects of them, still the occult ACTH source remained unrevealed. I attended the London Clinic this year (May 2006) for further investigations when MRI of the pituitary was repeated after 3 years and a 4 mm pituitary microadenoma was reported (left anterolateral aspect of the gland). Comparison with previous MRI scan in Ljubljana dated April 2003 was made and apparently this microadenoma was already visible then and has not changed since. The values of ACTH in my case varies from 15 to 90 pmol/l (ref. value is < 10 pmol/l).

On the basis of first line diagnostics in Slovenia it was excluded that the cause could be pituitary gland but at the London Clinic they pointed out that some things were done shallow:

• MRI-magnetic resonance imaging of the head (pituitary) in April 2003 was reported to be normal
• IPSS (intravenous petrosal sinus sampling after application of CRH) did not show any increase on ACTH levels, but this investigation was performed after I was already on treatment with medications (metyrapone) and the catheters were inserted only to the jugular bulbs and not in to the inferior petrosal sinuses- negative
• 8 DMT (dexamethasone suppression test) showed no significant drop of hormones - negative so my diagnosis was an ectopic secretion of ACTH (suspecting hormonal active tumor somewhere else in the body and not in the head).

Radiologist doctors in MC Ljubljana proposed to make an additional MRI scan and this was done in June 2006. After reviewing all of the images they agreed that there is a microadenoma. It was proposed by doctors (at the London Clinic and MC Ljubljana) to have a pituitary exploration with hope of removing the microadenoma in order to confirm or exclude that the cause of the Cushing´s is originating in the pituitary, which is very likely. I accepted and decided to do so because extensive examinations (in 3 years) did not confirm an ectopic ACTH source and MRI showed pituitary microadenoma. I decided to have the operation at The London Clinic because they are already familiar with my case and such an operation requires an experienced neurosurgeon. Doctors in Slovenia agreed that they don't have much experience for such procedures.

At the moment I'm waiting for approval from doctors and health insurance in Slovenia to provide the funds for the operation in London, UK. Because this operation costs a lot of money the whole process might last months to get an answer which also might be negative. I know this from my own experience in previous diagnostics I had abroad mostly at my own expenses. It took half a year of paperwork and a lot of my personal effort to get the agreement from Slovenian doctors and funds from health insurance just to repeat the PET scan in Sweden. So here is also my personal request. If anyone has any suggestions or can help me gather the needed finances if after a while I don't get the answer from health insurance or they simply refuse to pay for the operation, PLEASE contact me!