Addison’s disease: Primary adrenal insufficiency

Posted on May 2, 2016 by MaryO

Abstract

Adrenal insufficiency, a rare disorder which is characterized by the inadequate production or absence of adrenal hormones, may be classified as primary adrenal insufficiency in case of direct affection of the adrenal glands or secondary adrenal insufficiency, which is mostly due to pituitary or hypothalamic disease.

Primary adrenal insufficiency affects 11 of 100,000 individuals. Clinical symptoms are mainly nonspecific and include fatigue, weight loss, and hypotension. The diagnostic test of choice is dynamic testing with synthetic ACTH.

Patients suffering from chronic adrenal insufficiency require lifelong hormone supplementation. Education in dose adaption during physical and mental stress or emergency situations is essential to prevent life-threatening adrenal crises.

Patients with adrenal insufficiency should carry an emergency card and emergency kit with them.

From http://www.ncbi.nlm.nih.gov/pubmed/27129928

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‘Adrenal Fatigue’ Not Always Used Accurately

Posted on May 1, 2016 by MaryO

Dear Dr. Roach: I had apoplexy, a ruptured pituitary tumor, developed panhypopituitarism, then adrenal insufficiency. I am doing fairly well with cortisol replacement, thyroid supplement and oral diabetic medicine.

My problem is exhaustion that comes on very easily. I have other ailments to blame, too — chronic pain from fibromyalgia and tendinitis. I am 67. I am still able to work. Is adrenal fatigue a real issue, and if so, what can be done about it? — S.M.

Answer: The term “adrenal fatigue” is increasingly used, and not always correctly — or, at least, it is used in cases where it’s not clear if that is actually the case. But let me start by discussing what has happened to you. Pituitary apoplexy is bleeding into the pituitary gland, usually into a pituitary tumor, as in your case. This may cause severe headaches and vision changes, and often it prevents the pituitary from making the many important hormones that control the endocrine glands and regulate the body.

For example, without TSH from the pituitary gland, the thyroid won’t release thyroid hormone, and importantly, the adrenal gland can’t make cortisol without the influence of ACTH from the pituitary.

Rather than trying to replace TSH, ACTH and the other pituitary hormones, it is easier to directly replace the hormones made by the adrenal, thyroid and gonads. That’s why you are taking cortisol and thyroid hormone, and why younger women take estrogen and men testosterone. Although there is nothing wrong with your thyroid and adrenal glands, they simply won’t work unless stimulated.

Inadequate adrenal function from any cause leads to profound fatigue, and in the presence of severe stress, such as surgery or major infection, the body’s need for cortisol increases dramatically. Unless enough adrenal hormone is given in response, the result can be an immediate life-threatening condition called an Addisonian crisis.

Readers may email questions to ToYourGoodHealth@med.cornell.edu.

From http://www.vnews.com/To-Your-Good-Health–Adrenal-Fatigue–not-Always-Used-Accurately-1802516

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Straight Talk Cushing’s

Posted on April 8, 2016 by MaryO

awareness

 

On April 8th, people from around the world unite in support of Cushing’s Disease Awareness Day.

In this animated video, learn more about Cushing’s disease, including the mechanism of disease, clinical manifestations, symptoms and diagnosis challenges.

Filed under: adrenal, Cushing, Cushing's, Diagnostic Testing, pituitary, Treatments | Tagged: , , , | Leave a comment »

Mortality in adults with hypopituitarism

Posted on April 5, 2016 by MaryO

endo2016

 

April 04, 2016

Oral Session: Pituitary Patients and Outcomes

Mortality in adults with hypopituitarism: A systematic review and meta-analysis

S Jasim, F Alahdab, A Ahmed, S Tamhane, TB Nippoldt, H Murad

Summary: The purpose of this study was to review existing literature on mortality in hypopituitarism and determine possible predictors of this outcome to help create clinical practice guidelines. Premature mortality may be associated with hypopituitarism, and the risk of hypopituitarism is higher in women and patients diagnosed at a younger age, concluded researchers.

Methods:

  • Researchers conducted a comprehensive search of multiple databases: MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and Scopus.
  • Using a predefined protocol, they selected eligible studies that evaluated patients with hypopituitarism and reported mortality estimates.
  • Reviewers, independently and in duplicate, extracted data and assessed the risk of bias.

Results:

  • A total of 12 studies (published 1996 to 2015) that reported on 23515 patients were included in this review.
  • Compared to the general population, hypopituitarism was associated with an overall excess mortality (weighted SMR of 1.52; 95% CI: 1.14- 2.04), P=0.000.
  • The following were independent risk factors for increased mortality: younger age at diagnosis, female gender, diagnosis of craniopharyngioma, radiation therapy, transcranial surgery, DI, and hypogonadism.

From http://www.mdlinx.com/endocrinology/conference-abstract.cfm/ZZ6AA1CEC190F5428EA690616DAA054518/57001/?utm_source=confcoveragenl&utm_medium=newsletter&utm_content=abstract-list&utm_campaign=abstract-ENDO2016&nonus=0

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Cushing’s disease associated with USP8 mutations

Posted on April 5, 2016 by MaryO

endo2016

 

April 04, 2016

Oral Session: Pituitary Patients and Outcomes

Cushing’s disease associated with USP8 mutations

RR Correa, FR Faucz, A Angelousi, N Settas, P Chittiboina, MB Lodish, CA Stratakis

Summary: In Cushing’s disease (CD), pituitary corticotroph adenomas secrete excessive adrenocorticotropic hormone (ACTH), resulting in hypercortisolism. Often, the genetic pathogenesis of CD remains unknown, but recent studies have shown that the ubiquitin-specific protease 8 gene (USP8) is frequently mutated in CD. This gene codes for a protein deubiquitinase that inhibits the lysosomal degradation of the epidermal growth factor receptor. Researchers determined that pediatric patients with USP8 mutations were predominantly female and presented with higher ACTH levels than control patients.

Methods:

  • To further study the prevalence of mutations in USP8, researchers sequenced the complete USP8-coding and surrounding intronic regions in 97 patients with diagnosed CD by Sanger sequencing of germline DNA (n=97) and tumor DNA (n=50).
  • They analuzed biochemical and clinical characteristics in all the patients with predicted (by in silico analysis) damaging USP8 mutations and it was compared to patients without the mutation (control).

Results:

  • Overall researchers identified 18 (18.5%) patients with corticotroph adenomas who had USP8mutations, 13 with germline mutation, 2 with a germline and a new somatic mutation, and 5 with somatic mutation only.
  • All the somatic mutations that were not present at the germline level were mutations in the previously described hotspot.
  • Female-to-male ratio in the patients with USP8 mutations was 3.5:1 compared to the control ratio of 1:1 (P=0.05).
  • The mean age was 13 years old (range 6-18) and 72% (13/18) were whites.
  • Three of the mutant tumors were macroadenomas (≥ 1 cm) and 15 were microadenomas (< 1 cm).
  • In cases, mean basal plasma ACTH was 53.2±28.5 pg/mL and 39.6±19.1 pg/mL in the control group (P=0.02).
  • Researchers did not note any statistically significant differences in cortisol levels between the groups.

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