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    Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.
    Int J Mol Sci 2018 Apr 9;19(4). Epub 2018 Apr 9.
    Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.
    Primary aldosteronism is the most common form of endocrine hypertension with a prevalence of 6% in the general population with hypertension. The genetic basis of the four familial forms of primary aldosteronism (familial hyperaldosteronism FH types I-IV) and the majority of sporadic unilateral aldosterone-producing adenomas has now been resolved. Familial forms of hyperaldosteronism are, however, rare. Read More

    Resistant Hypertension in Adults With Type 1 or 2 Diabetes: A Structured Diagnostic Approach.
    Can J Diabetes 2018 Apr 8;42(2):173-178. Epub 2018 Jan 8.
    Home Dialysis, Division of Nephrology, St. Michael's Hospital, Toronto, Ontario, Canada. Electronic address:
    People with diabetes often have difficulty reaching their blood pressure targets and are labelled as having resistant hypertension. Clinicians often move quickly to screen such people for secondary causes of hypertension; however, such causes are rare, and resistant hypertension usually has other explanations that are significantly more common. By using a structured approach to resistant hypertension, clinicians can assist patients to reach their target blood pressure levels. Read More

    Bone Health in Adrenal Disorders.
    Endocrinol Metab (Seoul) 2018 Mar;33(1):1-8
    Division of Endocrinology and Metabolism, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
    Secondary osteoporosis resulting from specific clinical disorders may be potentially reversible, and thus continuous efforts to find and adequately treat the secondary causes of skeletal fragility are critical to ameliorate fracture risk and to avoid unnecessary treatment with anti-osteoporotic drugs. Among the hyperfunctional adrenal masses, Cushing's syndrome, pheochromocytoma, and primary aldosteronism are receiving particularly great attention due to their high morbidity and mortality mainly by increasing cardiovascular risk. Interestingly, there is accumulating experimental and clinical evidence that adrenal hormones may have direct detrimental effects on bone metabolism as well. Read More

    Two cases of hypokalaemic rhabdomyolysis: same but different.
    BMJ Case Rep 2018 Mar 22;2018. Epub 2018 Mar 22.
    Fourth Department of Medicine, Klinikum Wels-Grieskirchen, Wels, Austria.
    In this paper, we present two women with hypokalaemic rhabdomyolysis in the context of increased diuretic intake and gastroenteritis, respectively. While their clinical manifestations and laboratory results were strikingly similar, two different underlying disorders were subsequently unveiled. The first patient was diagnosed with Conn syndrome, and adrenalectomy led to significant improvement of hypertension and sustained normokalaemia. Read More

    Role of Mineralocorticoid Receptors in Obstructive Sleep Apnea and Metabolic Syndrome.
    Curr Hypertens Rep 2018 Mar 19;20(3):23. Epub 2018 Mar 19.
    Department of Vascular Biology and Hypertension Program, University of Alabama at Birmingham, Birmingham, AL, USA.
    Purpose Of Review: This review will summarize recent developments in the research on the mineralocorticoid receptor and its impact on obstructive sleep apnea and metabolic syndrome.

    Recent Findings: Aldosterone excess plays an important role in the association between resistant hypertension and obstructive sleep apnea. The prevalence of obesity is increasing rapidly worldwide and is especially common among patients with obstructive sleep apnea, resistant hypertension, and metabolic syndrome, suggesting probable mechanistic links between these three conditions. Read More

    Hypertensive crisis with 2 target organ impairment induced by glycyrrhizin: A case report.
    Medicine (Baltimore) 2018 Mar;97(11):e0073
    Department of Endocrinology and Metabolism.
    Rationale: Glycyrrhizin is the main active component of licorice. Licorice and glycyrrhizin induced hypertension has been widely reported, yet licorice and glycyrrhizin induced hypertensive crisis has been rarely known.

    Patient Concerns: The case of this report was a 47-year-old woman, who took 225 mg of glycyrrhizin daily for 3 years due to primary biliary cholangitis. Read More

    Total RNA Sequencing of Rett Syndrome Autopsy Samples Identifies the M Muscarinic Receptor as a Novel Therapeutic Target.
    J Pharmacol Exp Ther 2018 May 9;365(2):291-300. Epub 2018 Mar 9.
    Departments of Pharmacology (R.G.G., N.M.F., B.J.S., C.K.J., C.W.L., P.J.C., C.M.N.) and Chemistry (C.W.L.), and Vanderbilt Center for Neuroscience Drug Discovery (R.G.G., N.M.F., B.J.S., C.K.J., C.W.L., P.J.C., C.M.N.), Vanderbilt University, Nashville, Tennessee; and Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee (P.J.C., C.M.N.)
    Mutations in the gene are responsible for the neurodevelopmental disorder Rett syndrome (RTT). MeCP2 is a DNA-binding protein whose abundance and ability to complex with histone deacetylase 3 is linked to the regulation of chromatin structure. Consequently, loss-of-function mutations in MeCP2 are predicted to have broad effects on gene expression. Read More

    Update in adrenal venous sampling for primary aldosteronism.
    Curr Opin Endocrinol Diabetes Obes 2018 Mar 7. Epub 2018 Mar 7.
    Clinica dell'Ipertensione Arteriosa, Department of Medicine - DIMED - University of Padova, Padova, Italy.
    Purpose Of Review: Current guidelines recommend adrenal venous sampling (AVS) to identify the surgically curable causes of hyperaldosteronism. In contrast with this recommendation, AVS remains markedly underutilized in clinical practice, which leads to deny curative adrenalectomy, to many patients with primary aldosteronism. The purpose of this review is to challenge the views that AVS is a technically challenging, invasive and risky procedure, which moreover, is difficult to interpret. Read More

    Anomalous adrenal vein anatomy complicating the evaluation of primary hyperaldosteronism.
    Radiol Case Rep 2018 Feb 20;13(1):139-141. Epub 2017 Oct 20.
    Department of Interventional Radiology, Yale New Haven Hospital, New Haven, CT, USA.
    Adrenal vein development in utero occurs concurrently with the development of the inferior vena cava, the renal veins, and the gonadal veins. The embryologic formation of these veins involves communication of various venous systems. Although the left adrenal-renal vein complex is most commonly described as a shared emptying of the left adrenal vein and the left inferior phrenic vein into the left renal vein, there have been reports of numerous anatomic variations of this complex. Read More

    Adrenalectomy Lowers Incident Atrial Fibrillation in Primary Aldosteronism Patients at Long Term.
    Hypertension 2018 Apr 26;71(4):585-591. Epub 2018 Feb 26.
    From the Clinica dell'Ipertensione Arteriosa Department of Medicine - DIMED, University of Padua, Italy.
    Primary aldosteronism (PA) causes cardiovascular damage in excess to the blood pressure elevation, but there are no prospective studies proving a worse long-term prognosis in adrenalectomized and medically treated patients. We have, therefore, assessed the outcome of PA patients according to treatment mode in the PAPY study (Primary Aldosteronism Prevalence in Hypertension) patients, 88.8% of whom were optimally treated patients with primary (essential) hypertension (PH), and the rest had PA and were assigned to medical therapy (6. Read More

    Accuracy of adrenal computed tomography in predicting the unilateral subtype in young patients with hypokalaemia and elevation of aldosterone in primary aldosteronism.
    Clin Endocrinol (Oxf) 2018 May 13;88(5):645-651. Epub 2018 Mar 13.
    Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan.
    Context: The current Endocrine Society Guideline suggests that patients aged <35 years with marked primary aldosteronism (PA) and unilateral adrenal lesions on adrenal computed tomography (CT) scan may not need adrenal vein sampling (AVS) before proceeding to unilateral adrenalectomy. This suggestion is, however, based on the data from only one report in the literature.

    Objective: We sought to determine the accuracy of CT findings in young PA patients who had unilateral adrenal disease on CT with hypokalaemia and elevation of aldosterone. Read More

    A short review of primary aldosteronism in a question and answer fashion.
    Endocr Regul 2018 Jan;52(1):27-40
    5Resident Surgeon, 3rd Department of Surgery, Attikon University Hospital, University of Athens School of Medicine , Athens , Greece.
    Objectives: The aim of this study was to present up to date information concerning the diagnosis and treatment of primary aldosteronism (PA). PA is the most common cause of endocrine hypertension. It has been reported up to 24% of selective referred hypertensive patients. Read More

    Glucocorticoid-remediable aldosteronism in a young adult with a family history of Conn's syndrome.
    Clin Case Rep 2018 Feb 15;6(2):416-419. Epub 2018 Jan 15.
    Department of CardiologyKliniken an der PaarKrankenhaus AichachAichachGermany.
    Glucocorticoid-remediable aldosteronism is a hereditary form of primary hyperaldosteronism and the most common monogenic cause of hypertension. We present the case of a 24-year-old man with a family history of Conn's syndrome. Yet, in the index patient, classical characteristics of mineralocorticoid excess could be reversed by exogenous glucocorticoids. Read More

    Novel Compound Heterozygous CLCNKB Gene Mutations (c.1755A>G/ c.848_850delTCT) Cause Classic Bartter Syndrome.
    Am J Physiol Renal Physiol 2018 Feb 14. Epub 2018 Feb 14.
    Nephrology, Children's Hospital of Nanjing Medical University, China.
    Inactivated variants in CLCNKB gene encoding the basolateral chloride channel ClC-Kb cause classic Bartter syndrome characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here we identified two cBS siblings presenting hypokalemia in a Chinese family due to novel compound heterozygous CLCNKB mutations (c.848_850delTCT/c. Read More

    The angiotensin type 2 receptor in the human adrenocortical zona glomerulosa and in aldosterone-producing adenoma: low expression and no functional role.
    Clin Sci (Lond) 2018 Mar 20;132(6):627-640. Epub 2018 Mar 20.
    Clinica dell'Ipertensione Arteriosa, Department of Medicine-DIMED, University of Padova, Italy
    The angiotensin II (Ang II) type 2 receptor (AT2R) and the angiotensin-(1-7) (Ang-(1-7)) receptor (MasR) play a cardiovascular protective role by counter-regulating Ang II type 1 receptor (AT1R)-mediated effects, but whether this involves blunting of adrenocortical hormone secretion is unknown. We investigated the presence of AT1R, AT2R, and MasR in aldosterone-producing adenoma (APA), a condition featuring hyperaldosteronism, and in APA-adjacent tissue. The effect of Compound 21 (C21), an AT2R agonist, on CYP11B1 (cortisol synthase) and CYP11B2 (aldosterone synthase) gene expression in NCI-H295R and HAC15 cell lines, and in APA and APA-adjacent tissue, was also assessed using the AT1R antagonist irbesartan to ascertain the specificity of C21 effect. Read More

    Overview of aldosterone-related genetic syndromes and recent advances.
    Curr Opin Endocrinol Diabetes Obes 2018 Feb 8. Epub 2018 Feb 8.
    INSERM, UMRS_970, Paris Cardiovascular Research Center.
    Purpose Of Review: Primary aldosteronism is the most common form of secondary hypertension. Early diagnosis and treatment are key to cure of hypertension and prevention of cardiovascular complications. Recent genetic discoveries have improved our understanding on the pathophysiology of aldosterone production and triggered the development of new diagnostic procedures and targeted treatments for primary aldosteronism. Read More

    CLCN2 chloride channel mutations in familial hyperaldosteronism type II.
    Nat Genet 2018 Mar 5;50(3):349-354. Epub 2018 Feb 5.
    Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
    Primary aldosteronism, a common cause of severe hypertension , features constitutive production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial hyperaldosteronism type II (FH-II) and 80 additional probands with unsolved early-onset primary aldosteronism. Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p. Read More

    An institution-wide algorithm for direct-stick embolization of peripheral venous malformations.
    J Vasc Surg Venous Lymphat Disord 2018 May 1;6(3):351-357. Epub 2018 Feb 1.
    Division of Hematology, Department of Medicine, Cancer Institute of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.
    Objective: No standardized therapeutic algorithm or embolic agent of choice has yet been identified for management of congenital peripheral venous malformations (VMs). Treatment options and reported outcomes therefore vary widely. Herein, we present an institution-wide algorithm for management of symptomatic congenital peripheral VMs using a single embolotherapeutic modality. Read More

    Development of new preclinical models to advance adrenocortical carcinoma research.
    Endocr Relat Cancer 2018 Apr 25;25(4):437-451. Epub 2018 Jan 25.
    Division of EndocrinologyMetabolism and Diabetes, University of Colorado School of Medicine, Aurora, Colorado, USA
    Adrenocortical cancer (ACC) is an orphan malignancy that results in heterogeneous clinical phenotypes and molecular genotypes. There are no curative treatments for this deadly cancer with 35% survival at five years. Our understanding of the underlying pathobiology and our ability to test novel therapeutic targets has been limited due to the lack of preclinical models. Read More

    ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.
    PLoS One 2018 25;13(1):e0191602. Epub 2018 Jan 25.
    Department of Urology, Peking University First Hospital, Xicheng District, Beijing, China.
    To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogenic germline mutations were identified in all 3 PBMAH families. Secondary ARMC5 somatic mutations were found in two adrenal nodules from two PBMAH family members with ARMC5 germline mutations. Read More

    Prevalence of Cardiovascular Disease and Its Risk Factors in Primary Aldosteronism: A Multicenter Study in Japan.
    Hypertension 2018 Mar 22;71(3):530-537. Epub 2018 Jan 22.
    From the Department of Diabetes, Endocrinology, and Nutrition (Y. Ohno, M.S., N.I.) and Department of Urology (T. Yamasaki, O.O.), Kyoto University, Japan; Department of Internal Medicine, Graduate School of Medical Science, Kanazawa University, Japan (Y. Takeda); Department of Endocrinology, Metabolism, and Nephrology, Keio University School of Medicine, Tokyo, Japan (I.K., H.I.); Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Japan (H.U., M.T., M.N.); Department of Endocrinology and Metabolism, Saiseikai Yokohamashi Tobu Hospital, Yokohama, Japan (T.I.); Division of Metabolism and Endocrinology, Department of Internal Medicine, St. Marianna University School of Medicine Yokohama City Seibu Hospital, Japan (T. Katabami, Y. Tanaka); Department of Diabetes and Endocrinology, Sapporo City General Hospital, Japan (N.W., Y.S.); Department of Molecular Endocrinology and Metabolism, Tokyo Medical and Dental University, Japan (T. Yoshimoto, Y. Ogawa); Department of Metabolic Medicine, Kumamoto University, Japan (J.K.); Department of Nephrology and Endocrinology, Faculty of Medicine, The University of Tokyo, Japan (K.T., M.F.); Department of Endocrinology and Diabetes, Okazaki City Hospital, Japan (M.W.); Department of Cardiology, Sanda City Hospital, Japan (Y.M.); Division of Nephrology, Hypertension, and Endocrinology, Nihon University School of Medicine, Tokyo, Japan (H.K.); Department of Endocrinology, Metabolism, Rheumatology, and Nephrology, Oita University, Yufu, Japan (H.S.); Department of Cardiology, Akashi Medical Center, Japan (K.K.); Department of Metabolic Medicine (M.O.) and Department of Geriatric and General Medicine (K.Y.), Osaka University Graduate School of Medicine, Japan; Department of Cardiology, JR Hiroshima Hospital, Japan (Y.F.); Clinical Research Institute, National Hospital Organization Kyusyu Medical Center, Fukuoka, Japan (A.O.); Department of Endocrinology, Tenriyorozu Hospital, Tenri, Japan (S.O.); Department of Internal Medicine, Uwajima City Hospital, Japan (S.M.); Department of Internal Medicine, Matsuyama Red Cross Hospital, Japan (T.F.); Department of Endocrinology and Metabolism, Tottori University Hospital, Japan (S.I.); Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Japan (T. Yoneda); Division of Nephrology, Hypertension, Endocrinology, and Diabetology/Metabolism, Fukushima Medical University Hospital, Japan (S.H.); Department of Endocrinology and Diabetes Mellitus, Fukuoka University Hospital, Japan (T. Yanase); Department of Public Health, School of Medicine, International University of Health and Welfare, Narita, Japan (T.S.); Kyoto University Health Services, Japan (T. Kawamura); and Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Japan (F.M., Y. Tabara).
    There have been several clinical studies examining the factors associated with cardiovascular disease (CVD) in patients with primary aldosteronism (PA); however, their results have left it unclear whether CVD is affected by the plasma aldosterone concentration or hypokalemia. We assessed the PA database established by the multicenter JPAS (Japan Primary Aldosteronism Study) and compared the prevalence of CVD among patients with PA with that among age-, sex-, and blood pressure-matched essential hypertension patients and participants with hypertension in a general population cohort. We also performed binary logistic regression analysis to determine which parameters significantly increased the odds ratio for CVD. Read More

    Frontal dysconnectivity in 22q11.2 deletion syndrome: an atlas-based functional connectivity analysis.
    Behav Brain Funct 2018 Jan 20;14(1). Epub 2018 Jan 20.
    Department of Psychiatry and Behavioral Sciences, State University of New York Upstate Medical University, 750 East Adams Street, Syracuse, NY, USA.
    Background: 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental syndrome associated with deficits in cognitive and emotional processing. This syndrome represents one of the highest risk factors for the development of schizophrenia. Read More

    Who was Dr. William C. Baum?
    World J Surg 2018 Jan 19. Epub 2018 Jan 19.
    Department of Surgery, University of Virginia School of Medicine, P O Box 800709, Charlottesville, VA, 22908, USA.
    The first discovery of primary hyperaldosteronism secondary to an aldosterone-secreting adrenal adenoma has been credited solely to Dr. Jerome Conn, an endocrinologist at the University of Michigan and for whom, Conn syndrome was named. Dr. Read More

    Aldosterone, SGK1, and ion channels in the kidney.
    Clin Sci (Lond) 2018 Jan 19;132(2):173-183. Epub 2018 Jan 19.
    Department of Physiology, McGill University, 3649 Promenade Sir William Osler, Montreal, Quebec H3G 0B1, Canada
    Hyperaldosteronism, a common cause of hypertension, is strongly connected to Na, K, and Mg dysregulation. Owing to its steroidal structure, aldosterone is an active transcriptional modifier when bound to the mineralocorticoid receptor (MR) in cells expressing the enzyme 11β-hydroxysteroid dehydrogenase 2, such as those comprising the aldosterone-sensitive distal nephron (ASDN). One such up-regulated protein, the ubiquitous serum and glucocorticoid regulated kinase 1 (SGK1), has the capacity to modulate the surface expression and function of many classes of renal ion channels, including those that transport Na (ENaC), K (ROMK/BK), Ca (TRPV4/5/6), Mg (TRPM7/6), and Cl (ClC-K, CFTR). Read More

    A novel hybrid left renal vein transposition and endovascular stenting technique for the treatment of posterior nutcracker syndrome.
    J Vasc Surg Cases Innov Tech 2017 Sep 18;3(3):142-145. Epub 2017 Jul 18.
    Section of Vascular and Endovascular Surgery, Yale University, New Haven, Conn.
    Posterior nutcracker syndrome occurs when a retroaortic left renal vein becomes compressed between the abdominal aorta and the lumbar spine. Although open surgical approaches remain the treatment of choice, endovascular stenting has been used successfully. We describe a case of a 28-year-old man who presented with microscopic hematuria, left-sided flank pain, and testicular swelling. Read More

    GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.
    Eur J Endocrinol 2018 Mar 18;178(3):R101-R111. Epub 2018 Jan 18.
    Division of Internal Medicine and Hypertension UnitDepartment of Medical Sciences, University of Torino, Torino, Italy
    Aldosterone is the main mineralocorticoid hormone in humans and plays a key role in maintaining water and electrolyte homeostasis. Primary aldosteronism (PA), characterized by autonomous aldosterone overproduction by the adrenal glands, affects 6% of the general hypertensive population and can be either sporadic or familial. Aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia (BAH) are the two most frequent subtypes of sporadic PA and 4 forms of familial hyperaldosteronism (FH-I to FH-IV) have been identified. Read More

    A systematic review on management of nutcracker syndrome.
    J Vasc Surg Venous Lymphat Disord 2018 Mar 29;6(2):271-278. Epub 2017 Dec 29.
    Section of Vascular and Endovascular Surgery, Yale University School of Medicine, New Haven, Conn. Electronic address:
    Objective: Although nutcracker syndrome (NS) is rare, patients presenting with symptoms or signs and anatomic compression of the left renal vein (LRV) can be considered for intervention. Open, laparoscopic, and endovascular techniques have been developed to decrease the venous outflow obstruction of the LRV. The paucity of data regarding the management of this uncommon disease process poses a challenge for adequate recommendations of the best treatment modality. Read More

    Systematic review of May-Thurner syndrome with emphasis on gender differences.
    J Vasc Surg Venous Lymphat Disord 2018 May 28;6(3):399-407.e4. Epub 2017 Dec 28.
    Section of Vascular Surgery, Department of Surgery, Yale University School of Medicine, New Haven, Conn. Electronic address:
    Objective: May-Thurner syndrome (MTS) is increasingly recognized as a frequent source of leg swelling and a precipitating factor for venous thromboembolism. This paper is a systematic review of the English literature on MTS with an analysis focusing on gender differences in presentation and treatment.

    Methods: A systematic review of the English literature between April 1967 and December 2014 was performed using the following terms: "May-Thurner syndrome," "Cockett syndrome," and "iliac vein compression syndrome. Read More

    Image quality and radiation dose of low-tube-voltage CT with reduced contrast media for right adrenal vein imaging.
    Eur J Radiol 2018 Jan 26;98:150-157. Epub 2017 Nov 26.
    Department of Diagnostic Radiology, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
    Objectives: To compare image quality and radiation dose of right adrenal vein (RAV) imaging computed tomography (CT) among conventional, low kV, and low kV with reduced contrast medium protocols.

    Methods: One-hundred-and-twenty patients undergoing adrenal CT were randomly assigned to one of three protocols: contrast dose of 600mgI/kg at 120-kV tube voltage setting (600-120 group), 600mgI/kg at 80kV (600-80 group), and 360mgI/kg at 80kV (360-80 group). Iterative reconstruction was used for 80-kV groups. Read More

    Double hit! A unique case of resistant hypertension.
    BMJ Case Rep 2017 Dec 22;2017. Epub 2017 Dec 22.
    Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, NYU School of Medicine, New York City, New York, USA.
    A middle-aged woman with obesity, hyperlipidaemia and diet-controlled diabetes was referred for resistant hypertension. Her blood pressure (BP) was uncontrolled on five medications, including a diuretic. Physical exam revealed a systolic ejection murmur, and ECHO demonstrated moderate hypertrophy. Read More

    [Functional diagnostics in endocrinology].
    Internist (Berl) 2018 01;59(1):38-47
    Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Campus Innenstadt, Ziemssenstraße 1, 80366, München, Deutschland.
    When investigating many endocrinological diseases, basal laboratory parameters are not sufficient to distinguish between physiological and pathological hormone secretion. Functional diagnostics plays a decisive role in this context. Stimulation and suppression tests are used depending on whether under- or over-function needs to be diagnosed. Read More

    Congenital adrenal hyperplasia causing hypertension: an illustrative review.
    J Hum Hypertens 2018 Feb 18;32(2):150-157. Epub 2017 Dec 18.
    University of Calgary, Calgary, AB, Canada.
    Congenital adrenal hyperplasia (CAH) is often considered a pediatric endocrinology condition, but we present two cases of young adults who presented with hypertension. An 18-year-old woman was found to have hypertension and hypokalemia when she presented for gonadectomy for 46, XY gonadal dysgenesis. She was subsequently found to have low cortisol, elevated progesterone, and elevated aldosterone. Read More

    Genetics of tumors of the adrenal cortex.
    Endocr Relat Cancer 2018 Mar 12;25(3):R131-R152. Epub 2017 Dec 12.
    Institut CochinINSERM U1016, CNRS UMR8104, Paris Descartes University, Paris, France
    This review describes the molecular alterations observed in the various types of tumors of the adrenal cortex, excluding Conn adenomas, especially the alterations identified by genomic approaches these last five years. Two main forms of bilateral adrenocortical tumors can be distinguished according to size and aspect of the nodules: primary pigmented nodular adrenal disease (PPNAD), which can be sporadic or part of Carney complex and primary bilateral macro nodular adrenal hyperplasia (PBMAH). The bilateral nature of the tumors suggests the existence of an underlying genetic predisposition. Read More

    Adrenal Vein Sampling Is the Preferred Method to Select Patients With Primary Aldosteronism for Adrenalectomy: Con Side of the Argument.
    Hypertension 2018 01;71(1):10-14
    From the Department of Internal Medicine (J.D., J.W.M.L.) and Department of Health Evidence (G.J.v.d.W.), Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Hypertension, Institute of Cardiology, Warsaw, Poland (A.P.); and Department of Internal Medicine III, University Hospital Carl Gustav Carus, Technische Universität, Dresden, Germany (J.W.M.L).

    Adrenal Vein Sampling Is the Preferred Method to Select Patients With Primary Aldosteronism for Adrenalectomy: Pro Side of the Argument.
    Hypertension 2018 01;71(1):5-9
    From the Clinica dell'Ipertensione Arteriosa (G.P.R.) and Department of Medicine, DIMED (G.P.R.), University of Padova, Italy; Hudson Institute of Medical Research, Clayton Victoria, Australia (J.W.F.); and Monash University, Clayton, Victoria, Australia (J.W.F.).

    Genetic Reduction or Negative Modulation of mGlu Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome.
    ACS Chem Neurosci 2017 Dec 14. Epub 2017 Dec 14.
    Department of Pharmacology, Vanderbilt University , Nashville, Tennessee 37232, United States.
    Rett syndrome and MECP2 Duplication syndrome are neurodevelopmental disorders attributed to loss-of-function mutations in, or duplication of, the gene encoding methyl-CpG-binding protein 2 (MeCP2), respectively. We recently reported decreased expression and function of the metabotropic glutamate receptor 7 (mGlu) in a mouse model of Rett syndrome. Positive allosteric modulation of mGlu activity was sufficient to improve several disease phenotypes including cognition. Read More

    Targeted disruption of the gene in the female mouse lowers aldosterone levels.
    Clin Sci (Lond) 2018 Jan 16;132(1):145-156. Epub 2018 Jan 16.
    Department of Medicine, EMIT Division, Addenbrooke's Hospital, Hills Road, Cambridge, U.K.
    Aldosterone is released from adrenal zona glomerulosa (ZG) cells and plays an important role in Na and K homoeostasis. Mutations in the human inwardly rectifying K channel CNJ type () () gene encoding the G-coupled inwardly rectifying K channel 4 (GIRK4) cause abnormal aldosterone secretion and hypertension. To better understand the role of wild-type (WT) GIRK4 in regulating aldosterone release, we have looked at aldosterone secretion in a knockout (KO) mouse. Read More

    Coexistence of Primary Hyperaldosteronism and Graves' Disease, a Rare Combination of Endocrine Disorders: Is It beyond a Coincidence-A Case Report and Review of the Literature.
    Case Rep Endocrinol 2017 30;2017:4050458. Epub 2017 Oct 30.
    Department of Endocrinology, Colombo South Teaching Hospital, Kalubowila, Sri Lanka.
    Background: Primary hyperaldosteronism is a known cause for secondary hypertension. In addition to its effect on blood pressure, aldosterone exhibits proinflammatory actions and plays a role in immunomodulation/development of autoimmunity. Recent researches also suggest significant thyroid dysfunction among patients with hyperaldosteronism, but exact causal relationship is not established. Read More

    The E3 ubiquitin ligase Siah1 regulates adrenal gland organization and aldosterone secretion.
    JCI Insight 2017 Dec 7;2(23). Epub 2017 Dec 7.
    Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
    Primary and secondary hypertension are major risk factors for cardiovascular disease, the leading cause of death worldwide. Elevated secretion of aldosterone resulting from primary aldosteronism (PA) is a key driver of secondary hypertension. Here, we report an unexpected role for the ubiquitin ligase Siah1 in adrenal gland development and PA. Read More

    Case report: schwannoma arising from the unilateral adrenal area with bilateral hyperaldosteronism.
    BMC Endocr Disord 2017 Dec 6;17(1):74. Epub 2017 Dec 6.
    Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, 377-2 Ohno-higashi, Osaka-sayama, Osaka, 589-8511, Japan.
    Background: We report a rare case of a juxta-adrenal schwannoma that could not be discriminated from an adrenal tumor before surgical resection and was complicated by bilateral hyperaldosteronism. To the best of our knowledge, this is first case in which both a juxta-adrenal schwannoma and hyperaldosteronism co-existed.

    Case Presentation: A 69-year-old male treated for hypertension was found to have a left supra-renal mass (5. Read More

    Disordered CYP11B2 Expression in Primary Aldosteronism.
    Horm Metab Res 2017 Dec 4;49(12):957-962. Epub 2017 Dec 4.
    Medizinische Klinik und Poliklinik IV, Klinikum der Ludwig-Maximilians-Universität München, Munich, Germany.
    Primary aldosteronism is the most common type of secondary hypertension affecting 6-10% of patients with primary hypertension. PA is mainly caused by unilateral hyperaldosteronism due to an aldosterone-producing adenoma, unilateral hyperplasia with or without micronodules or bilateral zona glomerulosa hyperplasias with or without macro or micronodules. The development of antibodies against the terminal enzyme of aldosterone biosynthesis (CYP11B2) has permitted the further characterization of normal adrenals and resected adrenals from patients with primary aldosteronism. Read More

    Confirmatory Tests for the Diagnosis of Primary Aldosteronism: A Prospective Diagnostic Accuracy Study.
    Hypertension 2018 01 20;71(1):118-124. Epub 2017 Nov 20.
    From the Department of Endocrinology, the First Affiliated Hospital of Chongqing Medical University (Y.S., S.Y., W.H., J.H., Q.C., Y.W., T.L., L.M., Q.Z., S.Z., M.M., Z.W., H.Q., Q.L.) and School of Public Health and Management, Chongqing Medical University (B.P.), China; and Division of Cardiology, Department of Medicine, Pittsburgh Heart, Lung, Blood, and Vascular Medicine Institute, University of Pittsburgh Medical Center, University of Pittsburgh School of Medicine, PA (D.B.).
    The diagnosis of primary aldosteronism typically requires at least one confirmatory test. The fludrocortisone suppression test is generally accepted as a reliable confirmatory test, but it is cumbersome. Evidence from accuracy studies of the saline infusion test (SIT) and the captopril challenge test (CCT) has provided conflicting results. Read More

    Ann Endocrinol (Paris) 2017 Oct;78 Suppl 1:S11-S20
    Service d'endocrinologie, hôpital Haut-Lévèque, avenue Magellan, CHU de Bordeaux, 33600 Pessac, France.
    The 2017 Endocrine Society annual meeting included several communications and debates on the conservative adrenal surgery in bilateral hereditary pheochromocytomas (BHP), bilateral adrenal macronodular hyperplasia (BAMH) and primary hyperaldosteronism (PHA). The general principle is to preserve a part of the adrenal cortex to prevent the occurrence of a definitive adrenal insufficiency. In BHP, cortical sparing surgery allows more than 50% of patients to maintain normal corticotropic function at 10 years with a low recurrence rate (~ 10%). Read More

    ORAI1 mutations abolishing store-operated Ca entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
    J Allergy Clin Immunol 2017 Nov 16. Epub 2017 Nov 16.
    Department of Pathology, New York University School of Medicine, New York, NY. Electronic address:
    Background: Store-operated Ca entry (SOCE) through Ca release-activated Ca channels is an essential signaling pathway in many cell types. Ca release-activated Ca channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) 1 and STIM2. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. Read More

    [Clinical value of tumor size in the evaluation of adrenal incidentalomas].
    Zhonghua Yi Xue Za Zhi 2017 Nov;97(42):3324-3328
    Department of Endocrinology, PLA Lanzhou General Hospital, Lanzhou 730030, China.
    To investigate the clinical value of tumor size in the evaluation of endocrinological and histological natures regarding adrenal incidentaloma (AI) patients. A total of 1 941 AI patients who were hospitalized in Department of Endocrinology, Chinese PLA General Hospital between January 1997 and December 2016 were retrospectively reviewed. The demographics of patients, imaging features, functional status and histological results were analyzed. Read More

    [Role of adrenal vein sampling in differential diagnosis of primary aldosteronism subtypes].
    Zhonghua Yi Xue Za Zhi 2017 Nov;97(42):3291-3296
    Department of Endocrinology, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing 210008, China.
    To investigate the role of adrenal vein sampling (AVS) in identifying the subtype of primary aldosteronism (PA). AVS was performed in 50 patients who were confirmed as PA between September 2010 and September 2016 in Nanjing Drum Tower Hospital. Clinical, biochemical and follow-up data were reviewed retrospectively. Read More

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