What Is Adrenal Hyperplasia? – Yahoo News UK

Posted on March 31, 2015 by MaryO

Adrenal hyperplasia is a rare genetic condition that involves the adrenal glands, which lie just above the kidneys.

It results in a blockage in the assembly line that makes the stress hormone cortisol from its chemical precursors.

People with the condition have low levels of cortisol, which helps to regulate blood sugar levels. If they fall too low, it can result in a coma.

But in some cases, the blockage can also reduce the production of aldosterone, a hormone involved in the regulation of salt in the bloodstream.

If salt levels fall too low it can lead to dehydration, vomiting and death.

Regular treatment with steroid medicines can help to maintain normal hormone levels and although the condition is lifelong, the outlook is generally good.

via Missing Boy: What Is Adrenal Hyperplasia? – Yahoo News UK.

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PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia

Posted on March 31, 2015 by MaryO
Eur J Endocrinol. 2015 Mar 6. pii: EJE-14-1113. [Epub ahead of print]

PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia – a single-center study of 60 cases.

Thiel A1, Reis AC2, Haase M3, Goh G4, Schott M5, Willenberg HS6, Scholl UI7.

Author information

Abstract

Objective: Cortisol excess due to adrenal adenomas or hyperplasia causes Cushing’s syndrome. Recent genetic studies have identified a somatic PRKACAL206R mutation as a cause of cortisol-producing adenomas.

We aimed to compare the clinical features of lesions with PRKACA mutations to those with CTNNB1 mutations and to search for similar mutations in unilateral hyperplasia or tumors co-secreting aldosterone.

Design, patients and methods: 60 patients with cortisol excess who had adrenalectomies at our institution between 1992 and 2013 were assessed, and somatic mutations were determined by Sanger sequencing. 36 patients had overt Cushing’s syndrome, the remainder were subclinical. 59 cases were adenomas (three bilateral), one was classified as hyperplasia. Four tumors had proven co-secretion of aldosterone.

Results: Among cortisol-secreting unilateral lesions without evidence of co-secretion (n=52), we identified somatic mutations in PRKACA (L206R) in 23.1%, CTNNB1 (S45P, S45F) in 23.1%, GNAS (R201C) in 5.8% and CTNNB1 plus GNAS (S45P, R201H) in 1.9%. PRKACA and GNAS mutations were mutually exclusive. Of the co-secreting tumors, two (50%) had mutations in KCNJ5 (G151R and L168R). The hyperplastic gland showed a PRKACAL206R mutation, while patients with bilateral adenomas did not have known somatic mutations. PRKACA-mutant lesions were associated with younger age, overt Cushing’s syndrome and higher cortisol levels versus non-PRKACA-mutant or CTNNB1-mutant lesions. CTNNB1 mutations were more significantly associated with right than left lesions.

Conclusions: PRKACAL206R is present not only in adenomas, but also in unilateral hyperplasia and is associated with more severe autonomous cortisol secretion. Bilateral adenomas may be caused by yet-unknown germline mutations.

PMID:
25750087
[PubMed – as supplied by publisher]

From http://www.ncbi.nlm.nih.gov/pubmed/25750087

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The 3 Things That Wreck Your Hormones (Part 3) | Alan Christianson

Posted on March 28, 2015 by MaryO

adrenal-glands

When it comes to your hormones, stress is all about the adrenal glands. These are a couple of nickel-sized pieces of tissue that can completely make or break your health. The adrenal glands can be affected by diseases, but this is extremely rare and rather straightforward for doctors to diagnose. It is much more common for the adrenal glands to be free of disease but dysfunctional under a large stress load.

The adrenals are different from your other glands in that they make different amounts of hormones as the day goes on. They release a burst of cortisol to wake us up, and they shut it off at night to let us sleep.

Even when a disease or the aging process is the core problem with your hormones, the adrenals still play a role, and here is why: Hormones don’t really do anything until they go inside of your cells. Each cell has a wall around it that lets in just the right amount of hormones at just the right times.

Think of your cell as a castle wall with a drawbridge that only comes down to those who know the password phrase. The password phrase that lets hormones into your cell is “the cortisol rhythm.” The cortisol rhythm is controlled by the adrenal glands. When adrenal hormones are wrecked, it is important to understand what this means. It doesn’t mean they are unable to make hormones; it means their rhythm is disturbed. This is important because you may read that taking cortisol can help if you have low cortisol. At first, this makes sense and seems to fit the strategy for thyroid disease — if you have too little thyroid hormone, take some to replace what is lacking. The problem is that in the case of adrenal stress, low cortisol is not the result of the adrenals being unable to make cortisol. It is the result of all the parts involved in cortisol production being off in their timing. Putting more cortisol into the system just makes the problem worse.

If taking cortisol is not the answer, then what is?

Read the rest of the article at The 3 Things That Wreck Your Hormones (Part 3) | Alan Christianson.

 

 

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Day 3 Coverage of ENDO 2015

Posted on March 7, 2015 by MaryO

ENDO_2015

 

OR24-Adrenal Tumors: Clinical Implications of the Recent Molecular and Genetic Findings

Long term follow-up of a pivotal phase 2 study of Ultratrace® Iobenguane I-131 (AZEDRA) in patients with malignant relapsed/refractory pheochromocytoma/paraganglioma
C Jimenez, DA Pryma, DC Sullivan, JK Schwarz, RB Noto, N Stambler, T Armor, JD Jensen, RJ Israel

OR27-Hyperandrogenic Ovarian Dysfunction — Winner: Outstanding Abstract Award

The neurokinin B receptor antagonist AZD4901 decreases LH and testosterone secretion in women with PCOS: A randomized, double-blind, placebo-controlled clinical trial
JT George, R Kakkar, J Marshall, ML Scott, R Finkelman, T Ho, S McIntosh, JD Veldhuis, RA Anderson, L Webber

OR28-Lipids – Liver, Muscle, and Patient Bench to Bedside

Diagnosing familial hypercholesterolemia (FH) in the United States: Results from the CASCADE FH patient registry
Z Ahmad, C Newman, E O’Brien, P Shrader, EM deGoma, CD Ahmed, PM Moriarty, MRF Linton, MD Shapiro, PB Due, CM Ballantyne, WA Neal, D Duffy, L Hudgins, LC Hemphill, JA Underberg, KE Watson, SS Gidding, S Baum, K Wilemon, D Pickhardt, I Kindt, DJ Rader, M Roe, JW Knowles

OR30-Neuroendocrinology

Assessment of primary cancers in growth hormone-treated pediatric patients compared to population databases: An epidemiological analysis of a large, multinational, prospective observational study
CJ Child, AG Zimmermann, N Jia, LL Robison, JH Bramswig, WF Blum

Hypophysitis in the age of cancer immunotherapy: Experience in a large cancer center
MJoelle Pitteloud, R Dadu, ME Cabanillas, K Shah, MI-N Hu, MA Habra, SG Waguespack

OR34-Testosterone Replacement Therapy: Risks and Benefits

The association between testosterone use and major adverse cardiovascular events (MACE): An exploratory retrospective cohort analysis of two large, contemporary, coronary heart disease clinical trials
S Janmohamed, G Cicconetti, CE Koro, RV Clark, E Tarka

Oral Presentations in Reproductive Science–Winner: Oral Abstract Award in Reproductive Science

Effects of androgens and estrogens on cardiometabolic parameters in young adult men
EW Yu, H Lee, S-AM Burnett-Bowie, SC Hirsch, G Abrishamian-Garcia, LF Borges, DW Goldstein, AP Taylor, KE Wulczyn, AF Moore, JS Finkelstein

PP27-Hyperandrogenic Ovarian Dysfunction

Role of insulin resistance and hyperandrogenemia in early vascular dysfunction in adolescents with PCOS
SK Bartz, MC Caldas, R Krishnamurthy, R Krishnamurthy, FF Bacha

SAT 379-412-Cushing’s Syndrome

Does a normal urine free cortisol result rule out Cushing’s syndrome?
ST Sharma, LK Nieman

SAT 418-443-Biochemical, Genetic and Pharmacological Studies of the Pituitary and Hypothalamus

Clinical and molecular differences between invasive and non-invasive pituitary adenomas
DA Cano, M Mendez-Muros, E Venegas, N Gros, E Dios, N Garcia-Hernandez, A Madrazo-Atutxa, I Martin-Scheffer, E Cardenas, A Kaen, F Roldan, A Soto-Moreno

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OR17-Novel Aspects of Adrenal Tumors and the HPA Axis

Posted on March 6, 2015 by MaryO

ENDO_2015

 

March 06, 2015

OR17-Novel Aspects of Adrenal Tumors and the HPA Axis

Epigenetic modulation of DNA Is associated with fatigue, depression and anxiety in patients with Cushing’s syndrome in remission: A genome-wide methylation study

CAM Glad, JC Andersson-Assarsson, P Berglund, R Bergthorsdottir, O Ragnarsson, G Johannsson

Summary: Researchers conducted this study to determine whether patients with Cushing’s syndrome (CS) that is in remission have specific epigenetic alterations that are associated with persistent cognitive impairments, anxiety, fatigue, and depression. Patients with CS in remission were shows to have specific DNA methylation that differed from that of healthy controls and was strongly correlated with clinical traits of anxiety, depression and fatigue, they concluded, adding that their results may suggest that an interaction between the glucocorticoid and the retinoic acid receptor is implicated in the long-term outcome of patients with CS in remission. The persistent cognitive impairment observed in patients with CS in remission, therefore, may be due to epigenetic modulation of DNA, they concluded.

Methods:

  • For this cross-sectional, case-controlled, single center study, researchers included 48 women with CS in remission (mean age±SD: 52.9±14 years) and 16 controls (mean age±SD: 53.6±16 years) matched for age, gender and educational level.
  • The mean age at diagnosis of CS was 37±14 years and the median (interquartile range) duration of remission was 13 (5-19) years.
  • In all, 37 patients had Cushing’s disease (CD) and 11 had a cortisol producing adrenal adenoma.
  • Researchers used the fatigue impact scale (FIS) to evaluate fatigue, and the comprehensive psychopathological rating scale to evaluate depression and anxiety; they assessed cognitive function by standardized neuropsychological tests.
  • DNA was isolated from whole blood, and DNA methylation was analyzed on the Illumina Infinium HumanMethylation450K BeadChip, which simultaneously interrogates >465,000 methylation sites per sample.
  • Researchers performed data quality control and analysis using the ChAMP methylation analysis package in R, and used Spearmen’s rho to perform correlation analyses.

Results:

  • Researchers found that patients had higher median score for FIS, depression and anxiety.
  • Methylation analysis identified 3,903 probes (in 340 genes) in regions that were differently methylated between CS patients and controls, and they found that 28% of these were significantly correlated to at least one of the clinical traits.
  • Fatigue, depression and anxiety were the most commonly correlated traits, and two of the most highly correlated genes were RXRB and COL11A2.
  • Gene ontology analysis revealed that these belong to the same GO-terms and are involved in retinoic acid receptor activity.
  • Finally, researchers found that both genes were specifically hypomethylated in cases as compared to controls.

 

This project has received financial support from the Swedish federal government under the LUA/ALF agreement, The Health & Medical Care Committee of the Regional Executive Board, Region Västra Götaland, The Swedish Society of Medicine and The Swedish Society of Endocrinology.

From http://www.mdlinx.com/endocrinology/conference-abstract.cfm/ZZ5BA369FDE9DE4CED82CB6A7CD5BFD1BE/42321/?utm_source=confcoveragenl&utm_medium=newsletter&utm_content=abstract-list&utm_campaign=abstract-ENDO2015&nonus=0

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