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adrenal hyperplasia

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https://www.readbyqxmd.com/read/29157626/risk-association-of-congenital-anomalies-in-patients-with-ambiguous-genitalia-a-22-year-single-center-experience
#1
Jennifer M Heeley, Abby S Hollander, Paul F Austin, Diane F Merritt, Victoria G Wesevich, Ina E Amarillo
BACKGROUND: Ambiguous genitalia refers to a form of differences of sex development (DSD) wherein the appearance of the external genitalia is atypical. This rare condition presents challenges in decision-making and clinical management. Review of historical data may reveal areas for clinical research to improve care for patients with ambiguous genitalia. OBJECTIVE: This chart review was performed to identify patients with ambiguous genitalia, and to classify them as having 46,XX DSD, 46,XY DSD, or sex chromosome DSD...
November 17, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29157486/nouveaut%C3%A3-s-dans-l%C3%A2-hyperplasie-cong%C3%A3-nitale-des-surr%C3%A3-nales-new-insights-in-congenital-adrenal-hyperplasia
#2
L Dumeige, C Bouvattier, M Lombès
Congenital adrenal hyperplasia is an autosomal recessive disease due to functional abnormalities of adrenal steroid enzymes. The most common form of the disease is due to a 21-hydroxylase deficiency. The classical forms (most severe) are characterized by a deficiency in cortisol and sometimes in aldosterone, which may compromise the vital prognosis of neonates, and by an increase in androgen synthesis, leading to the virilization of girls' external genitalia at birth, followed by clinical signs of hyperandrogenism during childhood and adolescence...
October 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29157485/la-chirurgie-d%C3%A2-%C3%A3-pargne-surr%C3%A3-nalienne-du-cortex-%C3%A3-la-m%C3%A3-dulla-cortical-sparing-surgery-from-cortex-to-medulla
#3
A Ferriere, V Kerlan, A Tabarin
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%)...
October 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29150654/primary-aldosteronism-patients-show-skin-alterations-and-abnormal-activation-of-glucocorticoid-receptor-in-keratinocytes
#4
Julia Boix, Judit Bigas, Lisa M Sevilla, Maurizio Iacobone, Marilisa Citton, Francesca Torresan, Brasilina Caroccia, Gian Paolo Rossi, Paloma Pérez
Primary aldosteronism (PA) is a disease characterized by high aldosterone levels caused by benign adrenal tumors being the most frequent cause of secondary hypertension. Aldosterone plays vital physiological roles through the mineralocorticoid receptor (MR) but in certain cell types, it can also activate the glucocorticoid (GC) receptor (GR). Both MR and GR are structurally and functionally related and belong to the same family of ligand-dependent transcription factors that recognize identical GC regulatory elements (GREs) on their target genes...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29141372/-role-of-adrenal-vein-sampling-in-differential-diagnosis-of-primary-aldosteronism-subtypes
#5
H Y Li, P Li, S M Shen, X B Zhang, W H Feng, H Huang, W Chen, D L Zhu
Objective: To investigate the role of adrenal vein sampling (AVS) in identifying the subtype of primary aldosteronism (PA). Methods: 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. Bilaterally simultaneous catheterization without cosyntropin stimulation and contemporaneous cortisol measurement during AVS were used. Selectivity index (SI)≥1.5 suggested that the sample was from the adrenal vein...
November 14, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29129575/cardiovascular-events-and-target-organ-damage-in-primary-aldosteronism-compared-with-essential-hypertension-a-systematic-review-and-meta-analysis
#6
Silvia Monticone, Fabrizio D'Ascenzo, Claudio Moretti, Tracy Ann Williams, Franco Veglio, Fiorenzo Gaita, Paolo Mulatero
BACKGROUND: There is conflicting evidence, relying on heterogeneous studies, as to whether aldosterone excess is responsible for an increased risk of cardiovascular and cerebrovascular complications in patients with primary aldosteronism. We aimed to assess the association between primary aldosteronism and adverse cardiac and cerebrovascular events, target organ damage, diabetes, and metabolic syndrome, compared with the association of essential hypertension and these cardiovascular and end organ events, by integrating results of previous studies...
November 9, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29127765/high-aldosterone-and-cortisol-levels-in-salt-wasting-congenital-adrenal-hyperplasia-a-clinical-conundrum
#7
Sirisha Kusuma Boddu, Sheeja Madhavan
BACKGROUND: Salt wasting syndrome (hyponatremia, hyperkalemia, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (CAH) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA). In salt wasting CAH, serum aldosterone and cortisol levels are expected to be low. Cross reactivity between high levels of adrenal steroid precursors and aldosterone has recently been reported resulting in elevated aldosterone levels in CAH, leading to difficulty in differentiating between CAH and PHA...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29118987/massive-adrenal-incidentalomas-and-late-diagnosis-of-congenital-adrenal-hyperplasia-in-prostate-cancer
#8
Xin Feng, Gregory Kline
In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas on CT scan. Blood test did not reveal metanephrine excess. The patient was noted to have short stature (151 cm) and primary infertility. Elementary school photographs demonstrated precocious puberty. Physical examination revealed palpable abdominal (adrenal) masses...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29105481/different-therapeutic-options-in-patients-with-cushing-s-syndrome-due-to-bilateral-macronodular-adrenal-hyperplasia
#9
Nora M Albiger, Daniela Regazzo, Maurizio Iacobone, Carla Scaroni
Bilateral macronodular adrenal hyperplasia (BMAH) is a relatively rare cause of Cushing's syndrome (CS). In recent years, growing evidence has shown that steroidogenesis is regulated by aberrant G-protein-coupled receptors (GPCR) expression and their ligands, in a significant proportion of patients with BMAH. The screening of patients with overt or subclinical CS demonstrate the frequent expression of several GPCR that opened the option to potential therapeutic applications. Thus, several studies have demonstrated that targeting the involved receptor with specific antagonists, may result in a more or less effective control of cortisol excess...
November 3, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/29099925/quality-of-life-in-primary-aldosteronism-a-comparative-effectiveness-study-of-adrenalectomy-and-medical-treatment
#10
Marieke Velema, Tanja Dekkers, Ad Hermus, Henri Timmers, Jacques Lenders, Hans Groenewoud, Leo Schultze Kool, Johan Langenhuijsen, Aleksander Prejbisz, Gert-Jan van der Wilt, Jaap Deinum
Context: In primary aldosteronism (PA) two subtypes are distinguished: aldosterone-producing adenoma and bilateral adrenal hyperplasia. In general these are treated by adrenalectomy and mineralocorticoid receptor antagonists respectively. Objective: To compare the effects of surgical treatment and medical treatment on quality of life (QoL). Design: Post-hoc comparative effectiveness study within the SPARTACUS trial. Setting: Twelve Dutch hospitals and one Polish hospital...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29099150/expanded-carrier-screening-in-gamete-donors-of-venezuela
#11
Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner
OBJECTIVE: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map...
November 3, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29094256/efficacy-of-dexamethasone-suppression-test-during-the-diagnosis-of-primary-pigmented-nodular-adrenocortical-disease-in-chinese-adrenocorticotropic-hormone-independent-cushing-syndrome
#12
Shi Chen, Ran Li, Lin Lu, Lian Duan, Xuebin Zhang, Anli Tong, Hui Pan, Huijuan Zhu, Zhaolin Lu
OBJECTIVE: To evaluate the cut-off value of the ratio of 24 h urinary free cortisol (24 h UFC) levels post-dexamethasone to prior-dexamethasone in dexamethasone suppression test (DST) during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. DESIGN: Retrospective study. PARTICIPANTS: The patients diagnosed with primary pigmented nodular adrenocortical disease (PPNAD, n = 25), bilateral macronodular adrenal hyperplasia (BMAH, n = 27), and adrenocortical adenoma (ADA, n = 84) were admitted to the Peking Union Medical College Hospital from 2001 to 2016...
November 1, 2017: Endocrine
https://www.readbyqxmd.com/read/29076912/uptake-of-68ga-prostate-specific-membrane-antigen-pet-in-adrenal-gland-a-potential-pitfall
#13
Pia Strele-Trieb, Andreas Dunzinger, Michael Sonnberger, Johannes Wolfsgruber, Robert Pichler
A 76-year-old man with prostate cancer pT2c N0 M0 R1 GS9 (4+5) operated 2009 and radiated postoperatively underwent restaging by Ga-PSMA-PET in January 2017 because of PSA rise at 0.44 ng/ml under medication with GnRH analogues. An intense focal uptake of the diffusely enlarged left adrenal gland was observed as the only pathological finding. Further evaluation by MRI imaging revealed a plump left adrenal gland with a relatively enlarged diameter of 2 cm and excluded tumor and nodular hyperplasia as well. Without any change of the therapeutic regime the patient presented in July 2017 with a PSA level of 0...
October 26, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29073619/sodium-chloride-supplementation-is-not-routinely-performed-in-the-majority-of-german-and-austrian-infants-with-classic-salt-wasting-congenital-adrenal-hyperplasia-and-has-no-effect-on-linear-growth-and-hydrocortisone-or-fludrocortisone-dose
#14
Walter Bonfig, Friedhelm Roehl, Stefan Riedl, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Angela Hübner, Markus Bettendorf, Eckhard Schönau, Helmut Dörr, Reinhard W Holl, Klaus Mohnike
INTRODUCTION: Sodium chloride supplementation in salt-wasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. OBJECTIVE: To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. RESULTS: Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males)...
October 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29069360/mouse-models-of-primary-aldosteronism-from-physiology-to-pathophysiology
#15
Leticia Aragao-Santiago, Celso E Gomez-Sanchez, Paolo Mulatero, Ariadni Spyroglou, Martin Reincke, Tracy Ann Williams
Primary aldosteronism (PA) is a common form of endocrine hypertension that is characterized by the excessive production of aldosterone relative to suppressed plasma renin levels. PA is usually caused by either a unilateral aldosterone-producing adenoma or bilateral adrenal hyperplasia. Somatic mutations have been identified in several genes that encode ion pumps and channels that may explain the aldosterone excess in over half of aldosterone-producing adenomas, whereas the pathophysiology of bilateral adrenal hyperplasia is largely unknown...
October 23, 2017: Endocrinology
https://www.readbyqxmd.com/read/29068510/characteristics-of-adrenal-incidentalomas-in-a-new-zealand-centre
#16
Z Goh, I Phillips, P J Hunt, S Soule, T J Cawood
BACKGROUND: Management of adrenal incidentalomas (AI) is becoming more conservative, based on international data showing a low incidence of functional or malignant lesions. The clinical characteristics of AI in New Zealand are unknown. Therefore, whether the AI guidelines apply to the New Zealand population is also unknown. AIMS: To investigate the clinical characteristics of patients with AI presenting to a tertiary-care centre in New Zealand. METHOD: This study prospectively evaluated consecutive patients aged 18 or older with AI, 1 cm or larger, diagnosed in Canterbury, New Zealand...
October 25, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/29066490/novel-germline-p-gly42val-men1-mutation-in-a-family-with-multiple-endocrine-neoplasia-type-1-excellent-response-of-prolactinoma-to-cabergoline
#17
Viktoria F Koehler, Kerstin Jungheim, Ute Groß, Donato Iacovazzo, Alexander Mann, Márta Korbonits
We report on a 27-year-old male patient presenting with renal colic secondary to hyperparathyroidism. Further investigations confirmed a diagnosis of type 1 multiple endocrine neoplasia and revealed a 2.0 cm pancreatic neuroendocrine tumour as well as a pituitary macroadenoma with significantly elevated prolactin levels. The patient underwent three-gland parathyroidectomy, a left pancreatectomy, and received dopamine agonist treatment. Genetic testing revealed a novel germline heterozygote missense mutation in the MEN1 gene (p...
September 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29065434/unanswered-questions-in-the-genetic-basis-of-primary-aldosteronism
#18
Ute I Scholl
Over the past six years, the genetic basis of a significant fraction of primary aldosteronism (PA) cases has been solved. Breakthrough discoveries include the role of somatic variants in the KCNJ5, CACNA1D, ATP1A1, and ATP2B3 genes as causes of aldosterone-producing adenomas (APAs), and the recognition of three novel hyperaldosteronism syndromes with germline variants in the KCNJ5, CACNA1D, and CACNA1H genes. The description of somatic variants in CACNA1D and ATP1A1 in aldosterone-producing cell clusters (APCCs) suggests that these clusters are precursors of some aldosterone-producing adenomas...
October 24, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29065433/primary-aldosteronism-the-next-five-years
#19
John W Funder
The management of primary aldosteronism is widely varied within various published guidelines, with very little in the way of data supporting the choice of one variation over others. Current estimates of prevalence are probably accurate for aldosterone producing adenoma, but fall very short of that for bilateral adrenal hyperplasia. Discovery at the level of basic science has proven illuminating over the past 6 years in terms of unilateral disease and both somatic and germline mutations, with much less focus on the much more common bilateral disease; Attempts at harmonization have begun - for example, criteria for complete/partial/absent cure after adrenalectomy for unilateral disease; again focus on bilateral disease is muted...
October 24, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29046104/how-the-child-s-gender-matters-for-families-having-a-child-with-congenital-adrenal-hyperplasia
#20
Louise Fleming, Kathleen Knafl, Marcia Van Riper
Children with congenital adrenal hyperplasia (CAH) are exposed to high levels of testosterone in utero often resulting in nontypical genitalia at birth for girls. The purpose of this analysis, which draws on data from a larger study, was to examine, based on the gender of the child, the family experiences of having a child with CAH. Sixteen parents were interviewed, and comparisons were made across all categories coded in the parents' interviews to examine similarities and differences in the experiences of families based on the child's gender...
October 1, 2017: Journal of Family Nursing
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