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Top content from across the community, hand-picked by us.

Your hair can tell you and your doctor if you are stressed, have a nutritional deficiency, thyroid problem, or other health issues. Here are seven key things to look for in your hair.

You probably think about your hair every day: worrying about a bad day, enjoying a good blow-dry, or wondering if you have to try the new style you noticed in your favorite celebrity. But you may be missing the clues your hair reveals about your health. Research shows that changes in the look, texture, or thickness of your hair can be signs of underlying health issues. Here’s how to tell if your hair changes are due to a health condition, genetics, stress, or a nutritional deficiency.

2 brittle hair could be a sign of Cushing’s syndrome

Brittle hair is one of the symptoms of Cushing’s syndrome, which is a rare condition caused by excess cortisol, the main hormone body stress. But, there are many other, more obvious symptoms of Cushing’s syndrome, including high blood pressure, fatigue, and back pain. Treatment for Cushing’s syndrome may involve changing the dose of medication that may be causing the condition, such as glucocorticoids, which are steroids used to treat inflammation caused by various diseases.

3 Thinning hair may be a sign of thyroid disease

People with hypothyroidism, a condition that occurs when the thyroid gland does not produce enough thyroid hormones, may notice increased hair loss and change in hair appearance. About 4.6% of the population aged 12 years and older have hypothyroidism, although most cases are mild. Hypothyroidism can lead to thinning hair and other symptoms, such as fatigue, intolerance to cold, joint pain, muscle aches, puffy face and weight gain. A thyroid stimulating hormone (TSH) test can diagnose the condition, and treatment involves taking thyroid medication.

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Abstract: Adrenal insufficiency is an insidious diagnosis that can be initially misdiagnosed as other life-threatening endocrine conditions, as well as sepsis, metabolic disorders, or cardiovascular disease. In newborns, cortisol deficiency causes delayed bile acid synthesis and transport maturation, determining prolonged cholestatic jaundice. Subclinical adrenal insufficiency is a particular challenge for a pediatric endocrinologist, representing the preclinical stage of acute adrenal insufficiency. Although often included in the extensive work-up of an unwell child, a single cortisol value is usually difficult to interpret; therefore, in most cases, a dynamic test is required for diagnosis to assess the hypothalamic-pituitary-adrenal axis. Stimulation tests using corticotropin analogs are recommended as first-line for diagnosis. All patients with adrenal insufficiency need long-term glucocorticoid replacement therapy, and oral hydrocortisone is the first-choice replacement treatment in pediatric. However, children that experience low cortisol concentrations and symptoms of cortisol insufficiency can take advantage using a modified release hydrocortisone formulation. The acute adrenal crisis is a life-threatening condition in all ages, treatment is effective if administered promptly, and it must not be delayed for any reason.

Keywords: adrenal gland, primary adrenal insufficiency, central adrenal insufficiency, Addison disease, children, adrenal crisis, hydrocortisone
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Front Endocrinol (Lausanne). 2021 Dec 24;12:805647. doi: 10.3389/fendo.2021.805647. eCollection 2021.

ABSTRACT

Adrenal insufficiency (AI) is a life-threatening disorder, with increased morbidity and mortality, especially in case of an acute illness that can increase the requirement of cortisol. A novel infectious disease, termed Coronavirus Disease 2019 (COVID-19), appeared in 2020.

Therefore, AI patients are experiencing a novel challenge: the risk of infection. In our experience, a prompt contact to the Endocrine center (with a telemedicine consultation) and a full awareness of diseases (cortisol deficiency, COVID-19 and the self-management of an adrenal crisis) are important to motivate patients.

Vaccine is an effective treatment to prevent hospitalization and aggressive course of COVID-19. Some patients manifest challenges due to inequitable access and vaccine hesitancy, resulting in a delay in the acceptance of vaccines despite the availability of vaccination services. Therefore, an effort of all physicians must be conducted in order to advise patients with AI. In this short review, we try to answer some frequently asked questions regarding the management of patients with AI.

PMID:35002978 | PMC:PMC8739913 | DOI:10.3389/fendo.2021.805647

From https://www.docwirenews.com/abstracts/frequently-asked-questions-in-patients-with-adrenal-insufficiency-in-the-time-of-covid-19-2/
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Single-cell transcriptome analysis identifies a unique tumor cell type producing multiple hormones in ectopic ACTH and CRH secreting pheochromocytoma

Abstract

Ectopic Cushing’s syndrome due to ectopic ACTH&CRH-secreting by pheochromocytoma is extremely rare and can be fatal if not properly diagnosed. It remains unclear whether a unique cell type is responsible for multiple hormones secreting. In this work, we performed single-cell RNA sequencing to three different anatomic tumor tissues and one peritumoral tissue based on a rare case with ectopic ACTH&CRH-secreting pheochromocytoma. And in addition to that, three adrenal tumor specimens from common pheochromocytoma and adrenocortical adenomas were also involved in the comparison of tumor cellular heterogeneity. A total of 16 cell types in the tumor microenvironment were identified by unbiased cell clustering of single-cell transcriptomic profiles from all specimens. Notably, we identified a novel multi-functionally chromaffin-like cell type with high expression of both POMC (the precursor of ACTH) and CRH, called ACTH+&CRH + pheochromocyte. We hypothesized that the molecular mechanism of the rare case harbor Cushing’s syndrome is due to the identified novel tumor cell type, that is, the secretion of ACTH had a direct effect on the adrenal gland to produce cortisol, while the secretion of CRH can indirectly stimulate the secretion of ACTH from the anterior pituitary. Besides, a new potential marker (GAL) co-expressed with ACTH and CRH might be involved in the regulation of ACTH secretion. The immunohistochemistry results confirmed its multi-functionally chromaffin-like properties with positive staining for CRH, POMC, ACTH, GAL, TH, and CgA. Our findings also proved to some extent the heterogeneity of endothelial and immune microenvironment in different adrenal tumor subtypes.
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Meet Rare Disease Advocates from your state and region, get to know our YARR members, and win prizes!

Each session is arranged based on where you live and hosted by RDLA in partnership with the Young Adult Representatives of RDLA (YARR) and State Organization Leaders.

This is a fun opportunity for the rare disease community in each region and state to get together before Rare Disease Week to foster community and camaraderie. Whether you are new or a veteran of the rare disease community, there will be something for everyone. We want to take time to get together socially before the excitement of Rare Disease Week! See below for details on the virtual session in YOUR region.

Please note that you will be prompted to select which Meet and Greet session below you would like to attend once you reach the checkout page. One session per attendee. Please choose the session with the state from where you are located. Please note the time zone!

Virtual Regional Meet and Greet Sessions:
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Millions of people are at increased risk of type 2 diabetes and high blood pressure and don't even know it, due to a hidden hormone problem in their bodies.

As many as 1 in 10 people have a non-cancerous tumor on one or both of their adrenal glands that could cause the gland to produce excess amounts of the stress hormone cortisol.

Up to now, doctors have thought that these tumors had little impact on your health.

But a new study out of Britain has found that up to half of people with these adrenal tumors are secreting enough excess cortisol to raise their risk of diabetes and high blood pressure.

Nearly 1.3 million adults in the United Kingdom alone could suffer from this disorder, which is called Mild Autonomous Cortisol Secretion (MACS), the researchers said.

Anyone found with one of these adrenal tumors should be screened to see if their health is at risk, said senior researcher Dr. Wiebke Arlt, director of the University of Birmingham Institute of Metabolism and Systems Research in England.

"People who are found to have an adrenal tumor should undergo assessment for cortisol excess and if they are found to suffer from cortisol overproduction they should be regularly screened for type 2 diabetes and hypertension and receive treatment if appropriate," Arlt said...
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Ahead of its New Year's Day decision deadline at the FDA, Xeris Biopharma has snagged an approval for Recorlev, a drug formerly known as levoketoconazole.

Based on results from phase 3 studies called SONICS and LOGICS, the FDA approved the drug for adults with Cushing’s syndrome. Xeris picked up Recorlev earlier this year in its acquisition of rare disease biotech Strongbridge Biopharma. It's planning to launch in the first quarter of 2022.

Recorlev's approval covers the treatment of endogenous hypercortisolemia in adults with Cushing’s syndrome who aren't eligible for surgery or haven't responded to surgery.

Endogenous Cushing's disease is caused by a benign tumor in the pituitary gland that prompts the body to produce elevated levels of cortisol, which over time triggers a range of devastating physical and emotional symptoms for patients.

In the SONICS study, the drug significantly cut and normalized mean urinary free cortisol concentrations without a dose increase, according to the company. The LOGICS trial confirmed the drug's efficacy and safety, Xeris says.

Cushion's is a potentially fatal endocrine disease, and patients often experience years of symptoms before an accurate diagnosis, the company says. After a diagnosis, they're presented with limited effective treatment options.

Following the approval, the company's "experienced endocrinology-focused commercial organization can begin rapidly working to help address the needs of Cushing’s syndrome patients in the U.S. who are treated with prescription therapy,” Xeris CEO Paul R. Edick said in a statement.

Aside from its forthcoming Recorlev launch, Xeris markets Gvoke for severe hypoglycemia and Keveyis for primary periodic paralysis. 

Back in October, the company partnered up with Merck to help reformulate some of the New Jersey pharma giant's monoclonal antibody drugs. 
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The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases.

NORD is the U.S. sponsor for  Rare Disease Day  on Feb. 28. The annual awareness day spotlights approximately 7,000 rare diseases that affect more than 300 million people worldwide. More than 25 million Americans and their families are believed to be affected by rare diseases.

Participants are encouraged to light or decorate their homes in blue, green, pink, and purple at 7 p.m. local time on Feb. 28. (Blue should be used if only one color is possible.) NORD suggests using NovaBright to light up a building, monument, home, or neighborhood in these rare disease colors....
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ABSTRACT

CONTEXT: Acromegaly (ACM) and Cushing’s disease (CD) are caused by functioning pituitary adenomas secreting growth hormone and ACTH respectively.

OBJECTIVE: To determine the impact of race on presentation and postoperative outcomes in adults with ACM and CD, which has not yet been evaluated.

METHODS: This is a retrospective study of consecutive patients operated at a large-volume pituitary center. We evaluated (1) racial distribution of patients residing in the metropolitan area (Metro, N = 124) vs 2010 US census data, and(2) presentation and postoperative outcomes in Black vs White for patients from the entire catchment area (N = 241).

RESULTS: For Metro area (32.4% Black population), Black patients represented 16.75% ACM (P = .006) and 29.2% CD (P = .56). Among the total 112 patients with ACM, presentations with headaches or incidentaloma were more common in Black patients (76.9% vs 31% White, P = .01). Black patients had a higher prevalence of diabetes (54% vs 16% White, P = .005), significantly lower interferon insulin-like growth factor (IGF)-1 deviation from normal (P = .03) and borderline lower median growth hormone levels (P = .09). Mean tumor diameter and proportion of tumors with cavernous sinus invasion were similar. Three-month biochemical remission (46% Black, 55% White, P = .76) and long-term IGF-1 control by multimodality therapy (92.3% Black, 80.5% White, P = .45) were similar. Among the total 129 patients with CD, Black patients had more hypopituitarism (69% vs 45% White, P = .04) and macroadenomas (33% vs 15% White, P = .05). At 3 months, remission rate was borderline higher in White (92% vs 78% Black, P = 0.08), which was attributed to macroadenomas by logistic regression.

CONCLUSION: We identified disparities regarding racial distribution, and clinical and biochemical characteristics in ACM, suggesting late or missed diagnosis in Black patients. Large nationwide studies are necessary to confirm our findings.
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Researchers in Europe say they have shown for the first time that the SARS-CoV-2 virus attacks the human stress system by limiting how our adrenal glands can respond to the threat of Covid-19.

According to a study, the coronavirus targets the adrenal glands, thereby weakening the body’s ability to produce the stress hormones cortisol and adrenaline needed to help battle a serious infection.

Part of the body’s defence mechanism, these glands are indispensable for our survival of stressful situations, particularly with a coronavirus infection.

The research was published by a group of scientists in London, United Kingdom; Zurich, Switzerland; and Dresden and Regensburg in Germany, in the journal The Lancet Diabetes and Endocrinology last month (November 2021).

“The results of our latest work now show for the first time that the virus directly affects the human stress system to a relevant extent,” says Dr Stefan Bornstein, director of the Medical Clinic and Polyclinic III and the Centre for Internal Medicine at the University Hospital in Dresden.

Whether these changes directly contribute to adrenal insufficiency, or even lead to long Covid is still unclear, he says.

This question must be investigated in further clinical studies.

Pointing to recent research showing the effect of inhaling steroids to prevent clinical deterioration in patients with Covid-19, the researchers say certain drugs may be able to help limit this effect of the SARS-CoV-2 virus.

“This evidence underlines the potentially important role for adrenal steroids in coping with Covid-19,” scientists at the University of Zurich say.

The researchers analysed the data of 40 deceased Covid-19 patients in Dresden and found that their tissue samples showed clear signs of adrenal gland inflammation. 

From https://www.thestar.com.my/lifestyle/health/2021/12/22/how-the-sars-cov-2-virus-undermines-our-bodys-039fight039-response
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6. Cushing syndrome



This disorder occurs when your body makes too much of the hormone cortisol over a long period of time, according to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Although cortisol is notorious for driving up your stress, this hormone has other tasks on its docket, including regulating the way you metabolize food, the Mayo Clinic says. So, when you produce too much of it, it can interfere with your metabolism and cause you to gain weight, Peter LePort, M.D., a bariatric surgeon and medical director of MemorialCare Surgical Weight Loss Center at Orange Coast Medical Center in Fountain Valley, California, tells SELF.

Beyond weight gain, symptoms of Cushing syndrome include deposits of fat-based tissue at the midsection, upper back, face, and between the shoulders, stretch marks due to rapid weight gain, thinning skin prone to bruising, increased body hair, irregular or missing periods, and more, according to the Mayo Clinic.

Check out the other 12 at https://www.self.com/story/conditions-weight-gain-loss
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This article involves discussion on the use of standard and advanced magnetic resonance imaging (MRI) sequences to diagnose and characterize pituitary adenomas (PAs), including MRI characteristics related to treatment response that could assist in presurgical assessment and planning, and red flags that could suggest an alternative diagnosis.

Besides PAs, several other lesions may be found in the sellar region, such as meningiomas, craniopharyngiomas and aneurysms.

For assessing lesions in the sella turcica, sellar MRI is preferred.

With a systematic MRI approach to the pituitary region, generally the obtained information comprises: the size and shape of the PA, the presence of cysts or hemorrhage within the tumor, its link with the optic pathways and surrounding structures, potential cavernous sinus invasion, sphenoid sinus pneumatization type, and differential diagnosis with other sellar lesions.

In the majority of cases, standard protocol serves the purpose; but additional information could be obtained by using some advanced techniques (susceptibility imaging, diffusion-weighted imaging, 3D T2-weighted high-resolution sequences, magnetic resonance elastography, perfusion-weighted imaging) and such information may be important for some cases.

 

Journal Summary




Read the full article on Journal of Clinical Endocrinology and Metabolism.
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Please help us spread the word to other patients and caregivers about Rare Patient Voice by submitting a short video about your experience with us. Using the Storyvine app, recording a video on your phone is quick, easy, and fun! Videos will be featured on our website, on social media, and in newsletters.

Check out and join the growing group of RPV patients and caregivers who have recorded stories! https://rarepatientvoice.com#sharevoice



Follow these steps to record and submit your own video!
Step 1: Scan with code below with the camera app from your Apple/Android mobile device or click the link below!
https://admin.storyvine.com/app_users/sign_up/Sharing_My_Voice
Step 2: Download the Storyvine app from the App Store or Google Play
Step 3: Film and upload your video!

To thank you for recording a video, we will send you a Rarity zebra plushie AND enter you in a raffle to win a $100 Amazon gift card. Congratulations to Stacy of South Carolina, our December 1 raffle winner! Our next raffle will be held in early January.
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A retrospective analysis of data from more than 170 patients with Cushing syndrome and hyperglycemia provides insight into the effects of curative treatment on hyperglycemia among these patients.

An analysis of retrospective data from a 20-year period details the impact of curative treatment on hyperglycemia among patients with Cushing syndrome.

Led by a team of investigators from the Mayo Clinic in Rochester, MN, the study examined a cohort of 174 adult patients with Cushing Syndrome and determined 2-in-3 patients with hyperglycemia experienced resolution or improvement of hyperglycemia after a curative procedure.

“This is the first study to analyze the quantitative changes based on the time from the curative surgery, to assess the changes in the intensity of hyperglycemia therapy and identify predictors for hyperglycemia improvement,” wrote investigators.

A team led by Irina Bancos, MD, endocrinologist at the Mayo Clinic Rochester, designed the current study with an interest in examining the impact of curative procedures on hyperglycemia and its management in patients with Cushing syndrome from electronic medical record data of patients treated at a referral center from 2000-2019. The primary purpose of the study was to assess the impact of curative procedures on extent of hyperglycemia and the secondary aim was to investigators how baseline factors might influence improvement of hyperglycemia at follow-up.

For inclusion in the analysis, patients needed to be at least 18 years of age, diagnosed with Cushing syndrome, and have hyperglycemia treated with a curative procedure from January 1, 2000-November 1, 2019. For the purpose of analysis, Cushing syndrome was diagnosed based on clinical evaluation by an endocrinologist and diagnosed according to the most recent guidelines. Hyperglycemia was defined according to American Diabetes Association guidelines.
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Cushing syndrome (CS) is an endocrinological abnormality that results from a high level of glucocorticoids in the blood. Iatrogenic CS due to the overuse of topical corticosteroids is rarely reported. The current study aims to present a rare case of topical corticosteroid induced iatrogenic CS in an infant.

Case presentation

A 4-month-old female infant presented with an insidious onset of face puffiness that progressed over a 2-month period. The mother reported to have used a cream containing Betamethasone corticosteroid 5–8 times a day for a duration of 3 months to treat diaper dermatitis. Laboratory findings revealed low levels of adrenocorticotrophic hormone (ACTH) and serum. Abdominal ultrasound showed normal adrenal glands. The topical corticosteroid was halted and physiologic topical hydrocortisone doses were administered.

Clinical discussion

Infants are more likely to acquire topical corticosteroid induced iatrogenic CS due to their thin and absorptive skin, higher body surface area, and the high prevalence of conditions that necessitates the use of these medications. Most iatrogenic CS cases following topical steroid application have been reported in infants with diaper dermatitis that are most commonly treated with Clobetasol and Bethamethasone.

Conclusion

Infants are susceptible to develop CS due to topical corticosteroid overuse. Hence, physicians need to consider this in infantile CS cases, and take appropriate measures to avoid their occurrence....
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IGF-1 is an important growth hormone, mediating the protein anabolic and linear growth promoting effect of pituitary GH. It has a GH independent growth stimulating effect, which with respect to cartilage cells is possibly optimised by the synergistic action with GH.
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In this study we aimed to assess vitamin D metabolism in patients with Cushing’s disease (CD) compared to healthy individuals in the setting of bolus cholecalciferol treatment. The study group included 30 adults with active CD and the control group included 30 apparently healthy adults with similar age, sex and BMI. All participants received a single dose (150,000 IU) of cholecalciferol aqueous solution orally. Laboratory assessments including serum vitamin D metabolites (25(OH)D3, 25(OH)D2, 1,25(OH)2D3, 3-epi-25(OH)D3 and 24,25(OH)2D3), free 25(OH)D, vitamin D-binding protein (DBP) and parathyroid hormone (PTH) as well as serum and urine biochemical parameters were performed before the intake and on Days 1, 3 and 7 after the administration. All data were analyzed with non-parametric statistics. Patients with CD had similar to healthy controls 25(OH)D3 levels (p > 0.05) and higher 25(OH)D3/24,25(OH)2D3 ratios (p < 0.05) throughout the study. They also had lower baseline free 25(OH)D levels (p < 0.05) despite similar DBP levels (p > 0.05) and lower albumin levels (p < 0.05); 24-h urinary free cortisol showed significant correlation with baseline 25(OH)D3/24,25(OH)2D3 ratio (r = 0.36, p < 0.05). The increase in 25(OH)D3 after cholecalciferol intake was similar in obese and non-obese states and lacked correlation with BMI (p > 0.05) among patients with CD, as opposed to the control group. Overall, patients with CD have a consistently higher 25(OH)D3/24,25(OH)2D3 ratio, which is indicative of a decrease in 24-hydroxylase activity. This altered activity of the principal vitamin D catabolism might influence the effectiveness of cholecalciferol treatment. The observed difference in baseline free 25(OH)D levels is not entirely clear and requires further study.
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Teva Pharmaceuticals suffered a fresh legal setback on Tuesday in its effort to market a generic version of the synthetic steroid Korlym to treat Cushing's syndrome.

The Israeli drugmaker failed to convince the U.S. Court of Appeals for the Federal Circuit that the Patent Trial and Appeal Board improperly denied its bid to cancel a patent held by Corcept Therapeutics covering a method for using Korlym to treat the hormone disorder.

Menlo Park, California-based Corcept last year made over $353 million from sales of Korlym, the company's only drug, according to a filing with the U.S. Securities and Exchange Commission.

Corcept's patent relates to using a specific dose of Korlym's active ingredient mifepristone and another drug to treat Cushing's syndrome, which creates an excess of the hormone cortisol and causes high blood sugar, among other things.

 






Corcept sued Teva in New Jersey in 2018, alleging its proposed generic version of Korlym infringed the patent and others, in a case that is still ongoing. Teva asked the Patent Trial and Appeal Board to cancel the patent because earlier publications made it obvious that Corcept's method would work to treat the disorder.

The board ruled for Corcept last year, and Teva appealed. Teva told the Federal Circuit that the PTAB held it to an improperly high standard for proving that the patent was invalid based on prior art.

Chief U.S. Circuit Judge Kimberly Moore, joined by Circuit Judges Pauline Newman and Jimmie Reyna, rejected Teva's argument on Tuesday. Moore said the board found that a person of ordinary skill wouldn't have reasonably expected Corcept's treatment to be safe and effective before Corcept created it.

Moore also rejected Teva's argument that the prior art disclosed a range of potential dosages that covered Corcept's treatment...
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We are thrilled to invite you to join us and hundreds of others virtually for Rare Disease Week on Capitol Hill from February 22nd to March 2nd, for a week that can change your life. In 2022 advocates will once again have the opportunity to participate in the Points for Advocacy Scavenger Hunt and the EveryLife Foundation will award a total of $100,000 to the top-50 point earners' rare disease non-profit organization of choice!

Over the last 11 years, thousands of rare disease patients, family members, friends, and health care providers have joined together to give rare disease patients a voice on Capitol Hill. Meeting virtually during the pandemic has not slowed us down but has reenergized many of us on the importance of our advocacy work.

Both of our first times attending Rare Disease Week, Sarah in 2017 and Sarita in 2021, sparked our passion for advocacy!  We hope that you will join us for Rare Disease Week which brings the community together to learn, network and advocate.

Please reach out to RDLA staff Katelyn Laws at klaws@everylifefoundation.org if you have any questions or need more information.

 
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A TSH test is done to find out if your thyroid gland is working the way it should. It can tell you if it’s overactive (hyperthyroidism) or underactive (hypothyroidism). The test can also detect a thyroid disorder before you have any symptoms. If untreated, a thyroid disorder can cause health problems.

TSH stands for “thyroid stimulating hormone” and the test measures how much of this hormone is in your blood. TSH is produced by the pituitary gland in your brain. This gland tells your thyroid to make and release the thyroid hormones into your blood.

The Test

The TSH test involves simply drawing some blood from your body. The blood will then be analyzed in a lab. This test can be performed at any time during the day. No preparation is needed (such as overnight fasting). You shouldn’t feel any pain beyond a small prick from the needle in your arm. You may have some slight bruising.

In general, there is no need to stop taking your medicine(s) before having your TSH level checked. However, it is important to let the doctor know what medications you are taking as some drugs can affect thyroid function. For example, thyroid function must be monitored if you are taking lithium. While taking lithium, there is a high chance that your thyroid might stop functioning correctly. It's recommended that you have a TSH level test before starting this medicine. If your levels are normal, then you can have your levels checked every 6 to 12 months, as recommended by your doctor. If your thyroid function becomes abnormal, you should be treated.

High Levels of TSH..
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Patient: Female, 74-year-old

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

Symptoms: Edema • general fatigue • recurrent mechanical fall

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:
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The pituitary gland works hard to keep you healthy, doing everything from ensuring proper bone and muscle growth to helping nursing mothers produce milk for their babies. Its functionality is even more remarkable when you consider the gland is the size of a pea.

“The pituitary is commonly referred to as the ‘master’ gland because it does so many important jobs in the body,” says Karen Frankwich, MD, a board-certified endocrinologist at Mission Hospital. “Not only does the pituitary make its own hormones, but it also triggers hormone production in other glands. The pituitary is aided in its job by the hypothalamus. This part of the brain is situated above the pituitary, and sends messages to the gland on when to release or stimulate production of necessary hormones.”

These hormones include:

Growth hormone, for healthy bone and muscle mass


Thyroid-stimulating hormone, which signals the thyroid to produce its hormones that govern metabolism and the body’s nervous system, among others


Follicle-stimulating and luteinizing hormones for healthy reproductive systems (including ovarian egg development in women and sperm formation in men, as well as estrogen and testosterone production)


Prolactin, for breast milk production in nursing mothers


Adrenocorticotropin (ACTH), which prompts the adrenal glands to produce the stress hormone cortisol. The proper amount of cortisol helps the body adapt to stressful situations by affecting the immune and nervous systems, blood sugar levels, blood pressure and metabolism.


Antidiuretic (ADH), which helps the kidneys control urine levels


Oxytocin, which can stimulate labor in pregnant women
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Best friends Charly Clive and Ellen Robertson thought carefully about what to call the tumour that was growing in Charly’s brain.

The doctors had their own name for the golf-ball-sized growth sitting right behind Charly’s left eye — a pituitary adenoma — but the friends decided they needed something less scary. They flirted with calling it Terry Wogan (‘as in Pitui-Terry Wogan,’ says Ellen), but that didn’t seem quite right.
...

In 2015, Charly came home for a visit, and went to see her GP (played in the drama by Omid Djalili) about her lack of periods and a blind spot in her peripheral vision. An MRI scan showed a mass on her brain. ‘They said it had eroded the bone in my nose and was pressing on the optic nerve, and it was lucky we had caught it,’ she says. ‘The next step would have been discovering it because I’d gone blind.’
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The hypothalamic-pituitary-adrenal axis stimulation during pregnancy complicates the investigation of Cushing's syndrome. Our objective is to present a pregnant patient with Cushing syndrome caused by pituitary tumor in which the desmopressin stimulation test helped in the diagnosis and led to appropriate management.
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Can you go the extra mile and maybe help another Cushie out? They all seem to be so good at this in Oregon. We need to get other areas involved, too. If you can help in any of these areas, please post your info and I'll add it to the chart. Thanks!
 
Volunteer to be an Cushie Helper for someone in your area, either for doctor visits or as an online contact or both. Users of this list understand that it is at the Cushie Helper's discretion how far they are willing to travel and that the Cushie Helper is under no obligation.
 
You will get a special image for your signature showing the world that you're participating.
 

Cushie Helpers, arranged alphabetically by state / country
State and nearest large city
Board Name
Real first name (optional)
Could you ...
Do you have your own transportation?
Email address
go with another member to a doctor visit?
visit someone in the hospital?
IM, email or talk on the phone one on one?
Virginia.  Washington, DC
MaryO
Mary
yes
yes
yes
yes
CushingsSupport@aol.com
 
 
 
 
 
 
 
 
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