2015 Tribute to Champions of Hope Community






It’s that time of year again, when the rare disease community looks amongst themselves to identify and nominate agents of change, agents of innovation, and individuals who are working tirelessly on behalf of those affected by one of the 7,000 rare diseases impacting over 350 million people worldwide. Rare disease activists come from many different disciplines and are usually not recognized for the good work that they are doing. This is our opportunity as a community to come together to celebrate and honor those who are setting higher standards, making significant changes and fearlessly attacking challenges differently. Join Global Genes in recognizing these incredible individuals…

RARE Champion in Advocacy

…individuals either in rare disease or within the general public who have been involved in a program, event, legislative effort, or something else extraordinary to advocate for rare disease patients and their families. Nominees could include patients, patient advocates, celebrity, legislators, professional/Olympic athletes, etc.

Read the list of nominees, including MaryO, at https://globalgenes.org/championsofhope/

Moderately impaired renal function increases morning cortisol and cortisol levels at dexamethasone suppression test in patients with incidentally detected adrenal adenomas

Clin Endocrinol (Oxf). 2015 May 23. doi: 10.1111/cen.12823. [Epub ahead of print]



Patients with incidentally detected adrenal adenomas may have subclinical hypercortisolism. We hypothesized that impaired renal function could lead to increased cortisol levels in these patients.


Descriptive retrospective study of consecutive patients.


A total of 166 patients with incidentally detected unilateral adrenal adenomas were examined during 2008-2013.


Levels of cortisol, ACTH and cortisol at 1 mg overnight dexamethasone suppression test (DST) were measured. The estimated glomerular filtration rate (eGFR) was calculated using the MDRD equation.


Renal function was normal, mildly impaired, moderately impaired or severely impaired (eGFR >90, 60-90, 30-60 and 15-30 ml/min/1·73 m2 ) in 34, 54, 10 and 1% of the patients, respectively. Patients with normal and mildly impaired renal function had similar cortisol levels. Patients with moderately impaired renal function, compared to all the patients with eGFR >60 ml/min/1·73 m2 , exhibited increased cortisol (541 vs 456 nmol/l, P = 0·02), increased cortisol at DST (62 vs 37 nmol/l, P = 0·001), but similar ACTH levels (4·1 vs 2·9 pmol/l, P = 0·21). Patients with moderately impaired renal function thus exhibited cortisol at DST ≥50 nmol/l, more often than patients with eGFR >60 ml/min/1·73 m2 (76% vs 30%, P = 0·000), while the prevalence of ACTH below 2 pmol/l was similar (24% vs 31%, P = 0·51).


Moderately impaired renal function increases cortisol and cortisol at DST in patients with adrenal adenomas, while mildly impaired renal function has no such effect. Cortisol level at DST ≥50 nmol/l therefore seems to have low specificity in diagnosing subclinical adrenal hypercortisolism, and an additional criterion, for example low ACTH, is required.

© 2015 John Wiley & Sons Ltd.

[PubMed – as supplied by publisher]

From http://www.ncbi.nlm.nih.gov/pubmed/26010731

Multiple aberrant hormone receptors in Cushing’s Syndrome

Eur J Endocrinol. 2015 May 13. pii: EJE-15-0200. [Epub ahead of print]
Multiple Aberrant Hormone Receptors in Cushing’s Syndrome.


The mechanisms regulating cortisol production when ACTH of pituitary origin is suppressed in primary adrenal causes of Cushing’s syndrome include diverse genetic and molecular mechanisms. These can lead either to constitutive activation of the cAMP system and steroidogenesis or to its regulation exerted by the aberrant adrenal expression of several hormone receptors, particularly G-protein coupled hormone receptors (GPCR) and their ligands.

Screening for aberrant expression of GPCR in BMAH and unilateral adrenal tumors of patients with overt or subclinical CS demonstrates the frequent co-expression of several receptors. Aberrant hormone receptors can also exert their activity by regulating the paracrine secretion of ACTH or other ligands for those receptors in BMAH or unilateral tumors.

The aberrant expression of hormone receptors is not limited to adrenal Cushing’s syndrome but can be implicated in other endocrine tumors including primary aldosteronism and Cushing’s disease. Targeted therapies to block the aberrant receptors or their ligands could become useful in the future.

[PubMed – as supplied by publisher]

Value of dynamic MRI imaging in pituitary adenomas Indrajit I K, Chidambaranathan N, Sundar K, Ahmed I – Indian J Radiol Imaging

Objectives : MRI has proven to be the best imaging modality in the evaluation of pituitary tumors. Dynamic Imaging is technically a new tool, which has emerged with lot of promise in the evaluation of pituitary adenomas, particularly in accurate delineation of those microadenomas with no contour abnormality and in differentiating residual/recurrent adenoma from surrounding post operative tissue. Dynamic MR imaging is not only useful in the evaluation of pituitary microadenomas but has an equally important role in the assessment of macroadenoma as well. This study analyses and reviews the value of dynamic MR Imaging in pituitary adenomas and postoperative pituitary tumors.

Materials and Methods : A prospective MR Study was undertaken in twenty-five consecutive patients with suspected pituitary adenomatous lesions. These patients were subjected to dynamic MR imaging at our Department from Jan 1997 to Dec 1998. The study was performed on a 0.5T super conducting MR imaging system with Fast Spin echo technique. Gadodiamide (0.1 mmol/Kg) was administered over sixty seconds by hand injection. Dynamic coronal images were obtained simultaneously from three different portions of the gland. Fifteen images were obtained from each of the three portions at an interval of twenty to thirty seconds between the images.

Result : Dynamic MRI was performed in nineteen patients with microadenoma and six cases of macroadenoma. Dynamic MRI study was of diagnostic value in comparison with routine contrast MRI in eleven of the nineteen patients. Dynamic study did not add to the diagnosis and was merely of confirmatory value in remaining eight patients. Dynamic MRI study was used to identify the optimal time for delineation of the adenomatous tumor, by virtue view of the simultaneous differential contrast enhancement patterns between normal pituitary gland and adenoma. Further the enhancement pattern of the normal pituitary gland, the adenomatous nodule and the optimal delineation were individually assessed. This evaluation revealed the average time in seconds for onset of enhancement and the peak enhancement of normal pituitary gland were 43.1 and 111.9 seconds respectively. In comparison the pituitary adenomatous nodules exhibited an average time of 105.8 seconds for onset of enhancement and 188.1 seconds for peak enhancement. The average time in seconds for optimal tumor delineation was 93.9 seconds.

Conclusion : Dynamic MR Imaging has emerged as a technically refined tool in the evaluation of pituitary adenomas. The key questions in evaluation of pituitary adenomas include the presence or absence of a tumor, the number, the location of adenoma nodule, the invasive effects on adjacent structures and the post therapy status of adenoma. Clearly, dynamic MR Imaging is the foremost imaging modality answering these vital questions in patients with pituitary adenomas.

via Value of dynamic MRI imaging in pituitary adenomas Indrajit I K, Chidambaranathan N, Sundar K, Ahmed I – Indian J Radiol Imaging.

Florida Doctors ~ So Far



The doctors listed here have been recommended to Cushing’s Help by other patients as being helpful to them.  These physicians are familiar with the symptoms and treatment of Cushing’s Disease (pituitary) and Cushing’s Syndrome. Your primary care physician may be able to order very basic screening tests. Some of these doctors may require a referral and/or an abnormal test result prior to scheduling an appointment.

Cushing’s Help does not endorse any particular physician. Choosing a particular physician and substantiating his/her expertise is the responsibility of the individual patient.

To recommend your own doctor for this list, please fill out this form.

These doctors are also available on this map.  Please add yourself and/or your doctor.

This list is a continuing resource as new doctors are added, edited OR removed.




Dr. Eric Sauvageau 

Specialty: Endovascular Neurosurgeon

Location: 800 Prudential Drive – Suite 1100
Jacksonville, FL

Phone: 904-388-6518

Website: http://www.baptistjax.com/doctors/endovascular-neurosurgeon/dr-eric-sauvageau-md

Patient Comment: I went to him for my IPSS procedure. I was VERY impressed by the care that I received. Dr. Sauvageau is Top-Notch! He answered all of my questions & made me feel more comfortable about the IPSS. Very caring. He made a REALLY scary test (that I had cried about many times) EASY PEASY. In fact, everyone at the hospital was super nice! I went to him based on the reviews of 2 other Cushies . He is highly experienced in the procedure and used to do IPSS tests at OSU. I had no pain afterwards and I could barely find where they went in.


More coming soon!

%d bloggers like this: