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https://www.readbyqxmd.com/read/29781519/assessment-of-vertebral-microarchitecture-in-overt-and-mild-cushing-s-syndrome-using-trabecular-bone-score
#1
Helene Vinolas, Virginie Grouthier, Nadia Mehsen-Cetre, Amandine Boisson, Renaud Winzenrieth, Thierry Schaeverbeke, Charles Mesguich, Laurence Bordenave, Antoine Tabarin
OBJECTIVE: Osteoporotic fractures associated with Cushing's syndrome (CS) may occur despite normal bone mineral density (BMD). Few studies have described alterations in vertebral microarchitecture in glucocorticoid-treated patients and during CS. Trabecular bone score (TBS) estimates trabecular microarchitecture from dual-energy X-ray absorptiometry acquisitions. Our aim was to compare vertebral BMD and TBS in patients with overt CS and mild autonomous cortisol secretion (MACE), and following cure of overt CS...
May 21, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29760218/validation-of-an-expanded-carrier-screen-that-optimizes-sensitivity-via-full-exon-sequencing-and-panel-wide-copy-number-variant-identification
#2
Gregory J Hogan, Valentina S Vysotskaia, Kyle A Beauchamp, Stefanie Seisenberger, Peter V Grauman, Kevin R Haas, Sun Hae Hong, Diana Jeon, Shera Kash, Henry H Lai, Laura M Melroy, Mark R Theilmann, Clement S Chu, Kevin Iori, Jared R Maguire, Eric A Evans, Imran S Haque, Rebecca Mar-Heyming, Hyunseok P Kang, Dale Muzzey
BACKGROUND: By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends on the number of conditions tested, the prevalence of the respective diseases, and the screen's analytical sensitivity for identifying disease-causing variants. Disease-level analytical sensitivity is often <100% in ECS tests because copy number variants (CNVs) are typically not interrogated because of their technical complexity...
May 14, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29754639/adrenal-surgery-for-cushing-s-syndrome-an-update
#3
REVIEW
Guido Di Dalmazi, Martin Reincke
Recent advances in the molecular pathogenesis and the natural history of Cushing's syndrome have improved the understanding of the management of this disease. The long-term efficacy of several cortisol-lowering medical treatments is currently under evaluation. However, adrenalectomy is a safe option for the treatment of patients affected by Cushing's syndrome. Unilateral adrenalectomy is the gold standard for treatment of adrenocortical adenomas associated with hypercortisolism. Bilateral adrenalectomy has been widely used in the past as definitive treatment of bilateral macronodular hyperplasia and persistent or recurrent Cushing's disease...
June 2018: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/29752879/an-unusual-circulating-steroid-profile-in-a-virilized-postmenopausal-woman
#4
Patricia Benavent Correro, Marta Sáenz Valls, Ana García Cano, Lucía Jiménez Mendiguchia, Esther Moreno Moreno, Manuel Luque-Ramírez
BACKGROUND: Virilism is a female disorder in which secondary male sexual characteristics develop, caused by an excessive adrenal or ovarian androgen secretion. CASE PRESENTATION: Here, we report an unusual case of an ovarian steroid cell tumor, not otherwise specified (NOS), in a 68-year-old female who presented with androgenic alopecia, clitoromegaly and an increased muscle mass. Laboratory investigations revealed both ovarian and adrenal hyperandrogenism with an elevation of androgen precursors mimicking congenital adrenal hyperplasia...
May 12, 2018: Diagnosis
https://www.readbyqxmd.com/read/29750654/initial-presentations-and-associated-clinical-findings-in-patients-with-classical-congenital-adrenal-hyperplasia
#5
Asmaa Adel Milyani, Abdulmoein Eid Al-Agha, Mashael Al-Zanbagi
BACKGROUND: The objective of this study was to investigate the initial presenting features of children with classical congenital adrenal hyperplasia (CAH). METHODS: This is a descriptive retrospective study over a period of 5 years. Data analysis was performed using Statistical Package for Social Science. RESULTS: Ambiguous genitalia (AG) was the commonest initial presentation marking 50.7% of the patients. On the other hand, 33.3% presented with a salt-losing crisis, 4...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29748231/management-of-endocrine-disease-differential-diagnosis-investigation-and-therapy-of-bilateral-adrenal-incidentalomas
#6
Isabelle Bourdeau, Nada El Ghorayeb, Nadia Gagnon, Andre Lacroix
The investigation and management of unilateral adrenal incidentalomas have been extensively considered in the last decades. While bilateral adrenal incidentalomas represent about 15 percent of adrenal incidentalomas, they have been less frequently discussed. The differential diagnosis of bilateral incidentalomas includes metastasis, primary bilateral macronodular adrenal hyperplasia (BMAH) and bilateral cortical adenomas. Les frequent etiologies are bilateral pheochromocytomas, congenital adrenal hyperplasia, Cushing's disease or ectopic ACTH secretion with secondary bilateral adrenal hyperplasia, primary malignancies, myelolipomas, infections or hemorrhage...
May 10, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29742971/insufficiency-of-the-zona-glomerulosa-of-the-adrenal-cortex-and-progressive-kidney-insufficiency-following-unilateral-adrenalectomy-case-report-and-discussion
#7
Joanna Kanarek-Kucner, Adrian Stefański, Rufus Barraclough, Tomasz Gorycki, Jacek Wolf, Krzysztof Narkiewicz, Michał Hoffmann
BACKGROUND: Primary aldosteronism (PA) is the most common cause of secondary hypertension and bilateral adrenal hyperplasia (BAH) and aldosterone-producing adenoma (APA) seem to be the most common causes of PA. Unilateral adrenalectomy (UA) is the preferred treatment for APA, although the benefits are still difficult to assess. CASE REPORT: We present a case report of a 69-year old man with a 30 year history of hypertension and probably long-standing PA due to APA, with typical organ complications...
May 9, 2018: Blood Pressure
https://www.readbyqxmd.com/read/29742490/prenatal-treatment-of-congenital-adrenal-hyperplasia-long-term-effects-of-excess-glucocorticoid-exposure
#8
Svetlana Lajic, Leif Karlsson, Anna Nordenström
Prenatal treatment of congenital adrenal hyperplasia with dexamethasone (DEX) has been in use since the mid-1980s and has proven effective at reducing virilization of external genitalia in affected girls. However, multiple experimental studies on animals and clinical studies on humans show that prenatal administration of glucocorticoids may cause unwanted adverse effects which have raised concerns about the long-term safety of the treatment. The long-term outcome of prenatal DEX treatment on cognition has been investigated, but the results are still conflicting...
May 9, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29741297/a-pedunculated-aldosterone-producing-adenoma-drained-by-an-extra-vein-causing-puzzling-results-of-adrenal-vein-sampling
#9
Marieke S Velema, Tanja Dekkers, Ad R M M Hermus, Henri J L M Timmers, Johan Langenhuijsen, Mark Arntz, Benno Kusters, Graeme Eisenhofer, Jacques W M Lenders, Jaap Deinum
Primary aldosteronism (PA) is a common cause of endocrine hypertension in which two main subtypes are distinguished: bilateral adrenal hyperplasia (BAH) and aldosterone-producing adenomas (APA).1 Computed tomography (CT) and adrenal vein sampling (AVS) are used to differentiate between these subtypes. There are two basic conditions for AVS. First, aldosterone concentrations should be corrected for peripheral blood admixture by normalizing for cortisol concentration. Second, it is assumed that either adrenal is drained by one vein...
May 9, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29736184/beyond-pink-and-blue-the-complexity-of-early-androgen-effects-on-gender-development
#10
Sheri A Berenbaum
Why do girls and women differ from boys and men? Gender development is typically considered to result from socialization, but sex hormones present during sensitive periods of development, particularly prenatal androgens, play an important role. Data from natural experiments, especially from females with congenital adrenal hyperplasia, show the complexity of the effects of androgens on behavior: Prenatal androgens apparently have large effects on interests and engagement in gendered activities; moderate effects on spatial abilities; and relatively small or no effects on gender identity, gender cognitions, and gendered peer involvement...
March 2018: Child Development Perspectives
https://www.readbyqxmd.com/read/29735160/genomic-insights-into-cushing-syndrome
#11
Guillaume Assié
In the setting of Cushing syndrome, genomic analyses can be performed either in tumors responsible for endogenous Cushing, or in patients exposed to glucocorticoid excess. Genomics of tumors identified several new genes - including ZNRF3 in adrenocortical carcinomas, PRKACA in cortisol-producing adrenal adenomas, ARMC5 in primary macronodular adrenal hyperplasia and USP8 in pituitary corticotroph adenomas. These genes shed new lights on the mechanisms responsible for these tumors. Integrated genomic studies of adrenal carcinomas identified distinct molecular classes, with remarkably different prognostic outcome...
May 4, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#12
Walter L Miller, Deborah P Merke
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "contiguous gene syndrome" consisting of CAH and EDS...
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29733056/asociaci%C3%A3-n-de-leptina-con-factores-cardiometab%C3%A3-licos-en-escolares-y-adolescentes-con-hiperplasia-suprarrenal-cong%C3%A3-nita
#13
Jessie Nallely Zurita-Cruz, Miguel Ángel Villasís-Keever, Leticia Damasio-Santana, Leticia Manuel-Apolinar, Rosalba Ferrusca-Ceja, Elisa Nishimura-Meguro, Aleida de J Rivera-Hernández, Eulalia Garrido-Magaña
Introducción: En la hiperplasia suprarrenal congénita (HSC), la obesidad, la hiperinsulinemia y los niveles de leptina se encuentran incrementados. Objetivo: Identificar la frecuencia de los factores de riesgo cardiometabólico (FRC) en niños y adolescentes con HSC y explorar la relación con los niveles de leptina. Método: Estudio transversal de 40 pacientes a quienes se realizó somatometría y evaluación de glucosa, insulina, triglicéridos, 17-hidroxiprogesterona, leptina, colesterol HDL y LDL en ayuno...
2018: Gaceta Médica de México
https://www.readbyqxmd.com/read/29730618/role-of-sampling-times-and-serum-cortisol-cut-off-concentrations-on-the-routine-assessment-of-adrenal-function-using-the-standard-cosyntropin-test-in-an-academic-hospital-from-spain-a-retrospective-chart-review
#14
Andrés E Ortiz-Flores, Elisa Santacruz, Lucía Jiménez-Mendiguchia, Ana García-Cano, Lia Nattero-Chávez, Héctor F Escobar-Morreale, Manuel Luque-Ramírez
OBJECTIVES: Aiming to validate the use of a single poststimulus sampling protocol for cosyntropin test short standard high-dose test (SST) in our institution, our primary objectives were (1) to determine the concordance between 30 and 60 min serum cortisol (SC) measurements during SST; and (2) to evaluate the diagnostic agreement between both sampling times when using classic or assay-specific and sex-specific SC cut-off values. The secondary objectives included (1) estimating the specificity and positive predictive value of 30 and 60 min sampling times while considering the suspected origin of adrenal insufficiency (AI); and (2) obtaining assay-specific cut-off values for SC after SST in a group of subjects with normal hypothalamic-pituitary-adrenal (HPA) axis...
May 5, 2018: BMJ Open
https://www.readbyqxmd.com/read/29720511/prednisolone-is-associated-with-a-worse-bone-mineral-density-in-primary-adrenal-insufficiency
#15
Kathrin Frey, Tina Kienitz, Julia Schulz, Manfred Ventz, Kathrin Zopf, Marcus Quinkler
CONTEXT: Patients with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) receive life-long glucocorticoid (GC) therapy. Daily GC doses are often above the physiological cortisol production rate and can cause long-term morbidities such as osteoporosis. No prospective trial has investigated long-term effect of different GC-therapies on bone mineral density (BMD) in those patients. OBJECTIVES: To determine if patients on hydrocortisone (HC) or prednisolone show changes in BMD after follow-up of 5...
May 2, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29720169/atr-101-a-selective-acat1-inhibitor-decreases-acth-stimulated-cortisol-concentrations-in-dogs-with-naturally-occurring-cushing-s-syndrome
#16
Daniel K Langlois, Michele C Fritz, William D Schall, N Bari Olivier, Rebecca C Smedley, Paul G Pearson, Marc B Bailie, Stephen W Hunt
BACKGROUND: Cushing's syndrome in humans shares many similarities with its counterpart in dogs in terms of etiology (pituitary versus adrenal causes), clinical signs, and pathophysiologic sequelae. In both species, treatment of pituitary- and adrenal-dependent disease is met with limitations. ATR-101, a selective inhibitor of ACAT1 (acyl coenzyme A:cholesterol acyltransferase 1), is a novel small molecule therapeutic currently in clinical development for the treatment of adrenocortical carcinoma, congenital adrenal hyperplasia, and Cushing's syndrome in humans...
May 2, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29718004/update-on-diagnosis-and-management-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#17
Perrin C White
PURPOSE OF REVIEW: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated. RECENT FINDINGS: The basic biochemistry and genetics of CAH have been known for decades but continue to be refined by the discoveries of an alternative 'backdoor' metabolic pathway for adrenal androgen synthesis and the secretion of 11-hydroxy and 11-keto analogs of known androgens, by the elucidation of hundreds of new mutations, and by the application of high-throughput sequencing techniques to noninvasive prenatal diagnosis...
June 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29716804/root-cause-analysis-of-diagnostic-and-surgical-failures-in-the-treatment-of-suspected-cushing-s-disease
#18
Hasan A Zaidi, David L Penn, David J Cote, Edward R Laws
Cushing's disease (CD) is a condition characterized by excess glucocorticoid from an ACTH pituitary adenoma. Identifying surgical candidates represents a major diagnostic challenge. We performed a root cause analysis (RCA) of treatment failures for patients with suspected CD. The present study aims to categorize failures in treatment. Medical records were reviewed from 2008 to 2017 for all patients treated surgically for suspected CD. Demographics, past medical history, endocrine outcomes, imaging findings, laboratory studies and clinical features were collected...
April 28, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29715434/clinical-and-molecular-profile-of-newborns-with-confirmed-or-suspicious-congenital-adrenal-hyperplasia-detected-after-a-public-screening-program-implementation
#19
Cristiane Kopacek, Mayara J Prado, Claudia M D da Silva, Simone M de Castro, Luciana A Beltrão, Paula R Vargas, Tarciana Grandi, Maria L R Rossetti, Poli Mara Spritzer
OBJECTIVE: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. METHODS: A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification...
April 28, 2018: Jornal de Pediatria
https://www.readbyqxmd.com/read/29705181/-natural-progression-of-premature-pubarche-and-underlying-diseases
#20
María Luisa Sancho Rodríguez, Gloria Bueno Lozano, José Ignacio Labarta Aizpún, Antonio de Arriba Muñoz
INTRODUCTION: Premature pubarche (PP) is generally thought to be a benign condition, but it can also be the first sign of underlying disease. OBJECTIVE: To analyse the aetiology and the evolution of the anthropometric, analytical and metabolic risk parameters of a group of patients with PP. MATERIAL AND METHODS: A descriptive and analytical retrospective study of 92 patients affected by PP. Anthropometry, analyses, bone age and indicators of lipid metabolism were all evaluated...
April 25, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
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