keyword
MENU ▼
Read by QxMD icon Read
search

adrenal hyperplasia

keyword
https://www.readbyqxmd.com/read/28427378/assessment-of-cardiac-function-in-children-with-congenital-adrenal-hyperplasia-a-case-control-study-in-cameroon
#1
J Tony Nengom, S Sap Ngo Um, D Chelo, R Mbono Betoko, J Boombhi, F Mouafo Tambo, A Chiabi, S Kingue, P Koki Ndombo
BACKGROUND: High level of androgens found in congenital adrenal hyperplasia (CAH) seems to have a deleterious effect on heart function. We therefore evaluate cardiac function of children with CAH in comparison with a healthy group. METHODS: We carried out a case-control study in the single endocrinology unit of the Mother and Child Center of Chantal Biya's Foundation. Cases were matched for age and genotypic sex to 2 healthy controls. We analyzed the ejection fraction (LVEF), fractional shortening and left ventricular mass; output and cardiac index; E and A waves velocities, E/A ratio and the mitral deceleration time and diameter of the left atrium; tricuspid annular plane systolic excursion and pulmonary artery systolic pressure were also measured...
April 20, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28422753/steroid-metabolome-analysis-reveals-prevalent-glucocorticoid-excess-in-primary-aldosteronism
#2
Wiebke Arlt, Katharina Lang, Alice J Sitch, Anna S Dietz, Yara Rhayem, Irina Bancos, Annette Feuchtinger, Vasileios Chortis, Lorna C Gilligan, Philippe Ludwig, Anna Riester, Evelyn Asbach, Beverly A Hughes, Donna M O'Neil, Martin Bidlingmaier, Jeremy W Tomlinson, Zaki K Hassan-Smith, D Aled Rees, Christian Adolf, Stefanie Hahner, Marcus Quinkler, Tanja Dekkers, Jaap Deinum, Michael Biehl, Brian G Keevil, Cedric H L Shackleton, Jonathan J Deeks, Axel K Walch, Felix Beuschlein, Martin Reincke
BACKGROUND: Adrenal aldosterone excess is the most common cause of secondary hypertension and is associated with increased cardiovascular morbidity. However, adverse metabolic risk in primary aldosteronism extends beyond hypertension, with increased rates of insulin resistance, type 2 diabetes, and osteoporosis, which cannot be easily explained by aldosterone excess. METHODS: We performed mass spectrometry-based analysis of a 24-hour urine steroid metabolome in 174 newly diagnosed patients with primary aldosteronism (103 unilateral adenomas, 71 bilateral adrenal hyperplasias) in comparison to 162 healthy controls, 56 patients with endocrine inactive adrenal adenoma, 104 patients with mild subclinical, and 47 with clinically overt adrenal cortisol excess...
April 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28420172/subtype-diagnosis-of-primary-aldosteronism-is-adrenal-vein-sampling-always-necessary
#3
REVIEW
Fabrizio Buffolo, Silvia Monticone, Tracy A Williams, Denis Rossato, Jacopo Burrello, Martina Tetti, Franco Veglio, Paolo Mulatero
Aldosterone producing adenoma and bilateral adrenal hyperplasia are the two most common subtypes of primary aldosteronism (PA) that require targeted and distinct therapeutic approaches: unilateral adrenalectomy or lifelong medical therapy with mineralocorticoid receptor antagonists. According to the 2016 Endocrine Society Guideline, adrenal venous sampling (AVS) is the gold standard test to distinguish between unilateral and bilateral aldosterone overproduction and therefore, to safely refer patients with PA to surgery...
April 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28416079/management-of-childhood-congenital-adrenal-hyperplasia-an-integrative-review-of-the-literature
#4
Louise Fleming, Marcia Van Riper, Kathleen Knafl
Congenital adrenal hyperplasia (CAH) is an endocrine condition that requires parents to administer steroids up to three times daily, supplementing maintenance doses with oral or injectable doses during times of illness. The purpose of this integrative review was to explore the management, care, and associated health issues for children with CAH and the family response to the condition. Four literature indexes were searched, with 39 articles included. Four themes emerged: (a) Health- and Development-Related Issues, (a) Effects of Excess Androgens, (c) Life Experience of CAH, and (d) Managing and Averting Adrenal Crisis...
April 13, 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28401898/a-unique-haplotype-of-rccx-copy-number-variation-from-the-clinics-of-congenital-adrenal-hyperplasia-to-evolutionary-genetics
#5
Márton Doleschall, Andrea Luczay, Klára Koncz, Kinga Hadzsiev, Éva Erhardt, Ágnes Szilágyi, Zoltán Doleschall, Krisztina Németh, Dóra Török, Zoltán Prohászka, Balázs Gereben, György Fekete, Edit Gláz, Péter Igaz, Márta Korbonits, Miklós Tóth, Károly Rácz, Attila Patócs
There is a difficulty in the molecular diagnosis of congenital adrenal hyperplasia (CAH) due to the c.955C>T (p.(Q319*), formerly Q318X, rs7755898) variant of the CYP21A2 gene. Therefore, a systematic assessment of the genetic and evolutionary relationships between c.955C>T, CYP21A2 haplotypes and the RCCX copy number variation (CNV) structures, which harbor CYP21A2, was performed. In total, 389 unrelated Hungarian individuals with European ancestry (164 healthy subjects, 125 patients with non-functioning adrenal incidentaloma and 100 patients with classical CAH) as well as 34 adrenocortical tumor specimens were studied using a set of experimental and bioinformatic methods...
April 12, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28400483/somatic-and-inherited-mutations-in-primary-aldosteronism
#6
Fabio Luiz Fernandes-Rosa, Sheerazed Boulkroun, Maria-Christina Zennaro
Primary aldosteronism (PA), the most common form of secondary hypertension, is caused in the majority of cases by unilateral aldosterone producing adenoma (APA) or bilateral adrenal hyperplasia. In the last years, recurrent somatic mutations in KCNJ5, CACNA1D, ATP1A1, and ATP2B3 were proved to be associated with APA development, explaining more than 50% of sporadic APA. The identification of these mutations have allowed the establishment of a model for APA development involving modifications in the intracellular ionic equilibrium and in the regulation of cell membrane potential, leading to autonomous aldosterone overproduction...
April 11, 2017: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/28392195/clinical-characteristics-of-taiwanese-children-with-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-detected-by-neonatal-screening
#7
Shih-Yao Liu, Cheng-Ting Lee, Yi-Ching Tung, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Yu Tsai
BACKGROUND/PURPOSE: Neonatal screening for congenital adrenal hyperplasia (CAH) has been conducted in Taiwan since 2000. This study aimed to determine the clinical characteristics of Taiwanese children with CAH due to 21-hydroxylase deficiency (21-OHD) detected by neonatal screening. METHODS: From 2000 to 2015, 26 neonates (14 boys and 12 girls) with classic 21-OHD detected by neonatal screening and confirmed at National Taiwan University Hospital were enrolled...
April 6, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28388725/histopathological-classification-of-cross-sectional-image-negative-hyperaldosteronism
#8
Yuto Yamazaki, Yasuhiro Nakamura, Kei Omata, Kazue Ise, Yuta Tezuka, Yoshikiyo Ono, Ryo Morimoto, Yukinaga Nozawa, Celso E Gomez-Sanchez, Scott A Tomlins, William E Rainey, Sadayoshi Ito, Fumitoshi Satoh, Hironobu Sasano
Context: Approximately half of patients with primary aldosteronism (PA) have clinically evident disease according to clinical (hypertension) and/or laboratory (aldosterone and renin levels) findings but do not have nodules detectable in routine cross-sectional imaging. However, the detailed histopathologic, steroidogenic, and pathobiological features of cross-sectional image-negative PA are controversial. Objective: To examine histopathology, steroidogenic enzyme expression, and aldosterone-driver gene somatic mutation status in cross-sectional image-negative hyperaldosteronism...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28385310/prevalence-and-clinical-manifestations-of-primary-aldosteronism-encountered-in-primary%C3%A2-care%C3%A2-practice
#9
Silvia Monticone, Jacopo Burrello, Davide Tizzani, Chiara Bertello, Andrea Viola, Fabrizio Buffolo, Luisa Gabetti, Giulio Mengozzi, Tracy A Williams, Franco Rabbia, Franco Veglio, Paolo Mulatero
BACKGROUND: Despite being widely recognized as the most common form of secondary hypertension, among the general hypertensive population the true prevalence of primary aldosteronism (PA) and its main subtypes, aldosterone-producing adenoma (APA) and bilateral adrenal hyperplasia (BAH), remains a matter of debate. OBJECTIVES: This study sought to determine the prevalence and clinical phenotype of PA in a large cohort of unselected patients with hypertension, consecutively referred to our hypertension unit, by 19 general practitioners from Torino, Italy...
April 11, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28383228/classic-congenital-adrenal-hyperplasia
#10
Ingrid Nermoen, Eystein S Husebye, Anne Grethe Myhre, Kristian Løvås
Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagnostics and treatment.
April 2017: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/28382483/images-in-endocrine-pathology-unique-composite-adrenal-adenomatoid-tumor-ganglioneuroma-myelolipoma-and-cortical-nodular-hyperplasia
#11
Eleonora Duregon, Marco Volante, Stefano Guzzetti, Ida Rapa, Simona Vatrano, Mauro Papotti
No abstract text is available yet for this article.
April 5, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28376482/discordant-genotypic-sex-and-phenotype-variations-in-two-spanish-siblings-with-17%C3%AE-hydroxylase-17-20-lyase-deficiency-carrying-the-most-prevalent-mutated-cyp17a1-alleles-of-brazilian-patients
#12
Mónica Fernández-Cancio, Emilio García-García, Carmen González-Cejudo, María-Angeles Martínez-Maestre, Miguel-Angel Mangas-Cruz, Gil Guerra-Junior, Maricilda Pandi de Mello, Ivo J P Arnhold, Mirian Y Nishi, Berenice Bilharinho Mendonça, Elena García-Arumí, Laura Audí, Eduardo Tizzano, Antonio Carrascosa
17α-hydroxylase/17,20-lyase deficiency is a rare form of congenital adrenal hyperplasia caused by mutations in CYP17A1. Two phenotypic female sisters, aged 17 and 15 years and with 46,XY and 46,XX karyotypes, respectively, presented with primary amenorrhea and absent secondary sexual characteristics. The elder sib also presented with high blood pressure. Both patients had elevated levels of ACTH, gonadotropins, progesterone, corticosterone, and deoxycorticosterone, and reduced levels of estradiol, testosterone, androstenedione, 17-OH-P, DHEA-S, cortisol, aldosterone, and renin activity...
April 4, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28359061/intrafamilial-phenotypic-variability-and-consequences-of-non-compliance-with-treatment-in-congenital-adrenal-hyperplasia-and-congenital-hypothyroidism-within-a-single-family%C3%A2
#13
Nicola Improda, Caroline Ponmani, Nadia Schoenmakers, Senthil Senniappan, Abigail Atterbury, Angela Barnicoat, Krishna Chatterjee, Mehul T Dattani
BACKGROUND: Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to TG mutation in the same non-consanguineous family is rare. CASE SERIES: We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.I172N CYP21A2 mutations. Sibling 1 had salt-wasting CAH (CYP21A2 genotype Intron 2 splice/p.I172N and p.V281L). She also had CH (TG genotype p.R296/ p.T1416Rfs*30) and learning difficulties...
March 30, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28337809/expanded-newborn-screening-program-in-saudi-arabia-incidence-of-screened-disorders
#14
Majid Alfadhel, Ali Al Othaim, Saif Al Saif, Fuad El Mutairi, Moeenaldeen Alsayed, Zuhair Rahbeeni, Hamad Alzaidan, Mohammed Alowain, Zuhair Al-Hassnan, Mohamad Saeedi, Saeed Aljohery, Ali Alasmari, Eissa Faqeih, Mansour Alwakeel, Maher AlMashary, Sulaiman Almohameed, Mohammed Alzahrani, Abeer Migdad, Osama Y Al-Dirbashi, Mohamed Rashed, Mohamed Alamoudi, Minnie Jacob, Lujane Alahaidib, Fahd El-Badaoui, Amal Saadallah, Ayman Alsulaiman, Wafaa Eyaid, Ali Al-Odaib
AIM: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. METHODS: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders...
March 24, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28337175/effects-of-chronic-acth-excess-on-human-adrenal-cortex
#15
REVIEW
Xavier Bertagna
Chronic ACTH excess leads to chronic cortisol excess, without escape phenomenon, resulting in Cushing's syndrome. Excess adrenal androgens also occur: in females, they will overcompensate the gonadotrophic loss, inducing high testosterone; in males, they will not compensate it, inducing low testosterone. Chronic ACTH excess leads to chronic adrenal mineralocorticoid excess and low aldosterone levels: after an acute rise, aldosterone plasma levels resume low values after a few days when ACTH is prolonged. Two other mineralocorticoids in man, cortisol and 11 deoxycorticosterone (DOC), at the zona fasciculata, will not escape the long-term effect of chronic ACTH excess and their secretion rates will remain elevated in parallel...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28333238/clustering-of-pcos-like-traits-in-naturally-hyperandrogenic-female-rhesus-monkeys
#16
D H Abbott, B H Rayome, D A Dumesic, K C Lewis, A K Edwards, K Wallen, M E Wilson, S E Appt, J E Levine
STUDY QUESTION: Do naturally occurring, hyperandrogenic (≥1 SD of population mean testosterone, T) female rhesus monkeys exhibit traits typical of women with polycystic ovary syndrome (PCOS)? SUMMARY ANSWER: Hyperandrogenic female monkeys exhibited significantly increased serum levels of androstenedione (A4), 17-hydroxyprogesterone (17-OHP), estradiol (E2), LH, antimullerian hormone (AMH), cortisol, 11-deoxycortisol and corticosterone, as well as increased uterine endometrial thickness and evidence of reduced fertility, all traits associated with PCOS...
April 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28332873/the-effect-of-implementing-standard-recommendations-for-congenital-adrenal-hyperplasia
#17
David Gillis
No abstract text is available yet for this article.
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28320446/an-assessment-of-the-quality-of-the-i-dsd-and-the-i-cah-registries-international-registries-for-rare-conditions-affecting-sex-development
#18
M Kourime, J Bryce, J Jiang, R Nixon, M Rodie, S F Ahmed
BACKGROUND: With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses. METHODS: The design and operational aspects of the registries were evaluated against published quality indicators. Additional criteria included the level of activity, international acceptability of the registries and their use for research...
March 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28319498/fdopa-patterns-in-adrenal-glands-a-pictorial-essay
#19
Aurélie Moreau, Anne Laure Giraudet, David Kryza, Françoise Borson-Chazot, Claire Bournaud-Salinas, Thomas Mognetti, Jean-Christophe Lifante, Patrick Combemale, Francesco Giammarile, Claire Houzard
F-FDOPA is a well-established tool to explore pheochromocytomas. It tends to replace I-MIBG scan in metastatic pheochromocytomas, multiple endocrine neoplasia type 2-related tumors, succinate dehydrogenase [ubiquinone] iron-sulfur subunit-negative tumors, and succinate dehydrogenase[ZERO WIDTH SPACE]-positive lesions. To our knowledge, no study has characterized physiological and pathological adrenal glands with F-FDOPA from a quantitative point of view. We report the features of different normal and pathological adrenal glands with F-FDOPA...
May 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28299309/two-siblings-with-the-same-severe-form-of-21-hydroxylase-deficiency-but-different-growth-and-menstrual-cycle-patterns
#20
Mariarosaria Lang-Muritano, Karine Gerster, Susanna Sluka, Daniel Konrad
Congenital adrenal hyperplasia (CAH) is one of the most frequent autosomal recessive diseases in Europe. Treatment is a challenge for pediatric endocrinologists. Important parameters to judge the outcome are adult height and menstrual cycle. We report the follow-up from birth to adulthood of two Caucasian sisters with salt-wasting CAH due to the same mutation, homozygosity c.290-13A>G (I2 splice), in the 21-hydroxylase gene. Their adherence to treatment was excellent. Our objective was to distinguish the effects of treatment with hydrocortisone (HC) and fludrocortisone (FC) on final height (FH) from constitutional factors...
2017: Frontiers in Pediatrics
keyword
keyword
84506
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"