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https://www.readbyqxmd.com/read/28739615/primary-bilateral-adrenal-nodular-disease-with-cushing-s-syndrome-varying-aetiology
#1
Kush Dev Singh Jarial, Rama Walia, Uma Nahar, Anil Bhansali
Primary adrenal disorders contribute 20%â€"30% of patients with endogenous Cushing's syndrome. Most of the primary adrenal diseases are unilateral and include adenoma and adrenocortical carcinoma, whereas bilateral adrenal lesions are uncommon and include primary pigmented nodular adrenocortical disease, primary bilateral macronodular adrenocortical hyperplasia, isolated micronodular adrenocortical disease, bilateral adenomas or carcinomas, and rarely pituitary adrenocorticotropic hormone-dependent adrenal nodular disease...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28731586/pregnancy-in-women-with-non-classic-congenital-adrenal-hyperplasia-time-to-conceive-and-outcome
#2
Ori Eyal, Irit Ayalon-Dangur, Anat Segev-Becker, Anita Schachter-Davidov, Shoshana Israel, Naomi Weintrob
OBJECTIVE: Non-classic congenital adrenal hyperplasia (NCAH) is common among Ashkenazi Jews (1:400). It is associated with various degrees of postnatal virilization, irregular menses and infertility. Therapy of symptomatic subjects consists of physiologic doses of glucocorticoids. The objective of this study was to evaluate the effect of glucocorticoid treatment on fertility and on pregnancy outcome in women with NCAH. DESIGN, SETTING AND PATIENTS: This retrospective study included 75 women diagnosed with NCAH who were followed in our clinic and sought fertility between 2008 and 2015...
July 21, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28720594/impact-of-transition-on-quality-of-life-in-patients-with-congenital-adrenal-hyperplasia-diagnosed-during-childhood
#3
Anne Bachelot, Magaly Vialon, Amandine Baptiste, Isabelle Tejedor, Caroline Elie, Michel Polak, Philippe Touraine
BACKGROUND: Health-related quality of life (QoL) in adult patients with congenital adrenal hyperplasia (CAH) has been variously reported. However, there is no study evaluating the impact of transition on quality of life. METHODS: Adult patients with classic or non-classic CAH diagnosed during childhood CAH, born between 1970 and 1990, were recruited from the registers of Pediatric departments belonging to the French reference center for endocrine rare disease. Primary end point was the quality of life (WHOQoL -BREF)...
July 18, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28711608/do-anabolic-androgenic-steroids-have-performance-enhancing-effects-in-female-athletes
#4
REVIEW
Grace Huang, Shehzad Basaria
Doping with anabolic-androgenic steroids (AAS) is common among both male and female athletes and is a growing public health problem. Review of historical data of systematic state-sponsored doping programs implemented by the German Democratic Republic in elite female athletes and from clinical trials of testosterone administration in non-athlete women suggests that AAS have ergogenic effects in women. The use of AAS in female athletes has been associated with adverse effects that include acne, hirsutism, deepening of the voice and menstrual disturbances; life-threatening adverse effects such as cardiac arrhythmias and sudden death have also been reported...
July 12, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28707538/adrenal-cortical-hyperplasia-diagnostic-workup-subtypes-imaging-features-and-mimics
#5
Michelle Agrons, Corey T Jensen, Mouhammed Amir Habra, Christine O Menias, Akram M Shaaban, Nicolaus A Wagner-Bartak, Alicia M Roman-Colon, Khaled M Elsayes
Adrenal cortical hyperplasia manifests radiologically as the nonmalignant growth, or enlargement of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Controlled by the pituitary gland, the adrenal cortex drives critical processes, such as cortisol, mineralocorticoid, and sex hormone production. Any disruption in the multiple enzymes and hormones involved in these pathways may cause serious or life-threatening symptoms, often associated with anatomical changes of the adrenal glands...
July 14, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28699986/diagnosis-and-management-of-primary-aldosteronism
#6
Leticia A P Vilela, Madson Q Almeida
Primary aldosteronism (PA) is the most common form of secondary hypertension (HTN), with an estimated prevalence of 4% of hypertensive patients in primary care and around 10% of referred patients. Patients with PA have higher cardiovascular morbidity and mortality than age- and sex-matched patients with essential HTN and the same degree of blood pressure elevation. PA is characterized by an autonomous aldosterone production causing sodium retention, plasma renin supression, HTN, cardiovascular damage, and increased potassium excretion, leading to variable degrees of hypokalemia...
May 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28697655/functional-ulnar-nerve-paraganglioma-first-documented-occurrence-in-the-extremity-with-hitherto-undescribed-associated-extensive-glomus-cell-hyperplasia-and-tumorlet-formation
#7
Louis Tsun Cheung Chow, Michael Ho Ming Chan, Simon Kwok Chuen Wong
Extra-adrenal paraganglioma has never been described in the extremities. A 34-year-old woman complained of an enlarging mass in the right forearm for 18 months. Imaging showed a circumscribed vascular tumor attached to the ulnar nerve; biopsy revealed features of paraganglioma. The resected tumor consisted of zellballen pattern of chief cells staining positively for chromogranin with surrounding S100-positive sustentacular cells. The chief cells contained many neurosecretory granules and mitochondria, whereas the sustentacular cells contained a large amount of rough endoplasmic reticulum and some microfilaments...
July 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28696998/evaluation-and-management-of-vaginoplasty-complications
#8
Anne-Marie Amies Oelschlager, Anna Kirby, Lesley Breech
PURPOSE OF REVIEW: Indications for vaginoplasty include congenital conditions such as adrenal hyperplasia, cloacal malformations, and Müllerian agenesis, acquired conditions including stenosis from radiation or surgical resection for malignancy, and gender affirmation. All vaginoplasty techniques carry significant risk of both immediate and long-term complications. RECENT FINDINGS: The purpose of this study is to provide a review of the evaluation and management of the neovagina, addressing management of human papilloma virus infections and complications including stenosis, fistula, prolapse, and neovaginal colitis...
July 10, 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28690744/-macro-adrenal-adenoma-masking-micronodular-adrenal-hyperplasia-in-patients-with-acth-independent-cushing-s-syndrome-and-refractory-hypokalaemia
#9
Wafa Alaya, Haifa Bouchahda, Asma Fradi, Baha Zantour, Mohamed Habib Sfar
No abstract text is available yet for this article.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28689203/global-application-of-the-assessment-of-communication-skills-of-paediatric-endocrinology-fellows-in-the-management-of-differences-in-sex-development-using-the-espe-e-learning-org-portal
#10
Laura J C Kranenburg, Sam T H Reerds, Martine Cools, Julie Alderson, Miriam Muscarella, Ellie Magrite, Martijn Kuiper, Shereen Abdelgaffar, Antonio Balsamo, Raja Brauner, Jean Pierre Chanoine, Asma Deeb, Patricia Fechner, Alina German, Paul Martin Holterhus, Anders Juul, Berenice B Mendonca, Kristen Neville, Anna Nordenstrom, Wilma Oostdijk, Rodolfo A Rey, Meilan M Rutter, Nalini Shah, Xiaoping Luo, Kalinka Grijpink, Stenvert L S Drop
BACKGROUND: Information sharing in chronic conditions such as disorders of/differences in sex development (DSD) is essential for a comprehensive understanding by parents and patients. We report on a qualitative analysis of communication skills of fellows undergoing training in paediatric endocrinology. Guidelines are created for the assessment of communication between health professionals and individuals with DSD and their parents. METHODS: Paediatric endocrinology fellows worldwide were invited to study two interactive online cases (www...
July 7, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28676429/the-role-of-armc5-in-human-cell-cultures-from-nodules-of-primary-macronodular-adrenocortical-hyperplasia-pmah
#11
Isadora P Cavalcante, Mirian Nishi, Maria Claudia N Zerbini, Madson Q Almeida, Vania B Brondani, Maria Luiza Anhaia de Arruda Botelho, Fabio Y Tanno, Victor Srougi, José Luis Chambo, Berenice B Mendonca, Jérôme Bertherat, Claudimara F P Lotfi, Maria Candida B V Fragoso
The participation of aberrant receptors and intra-adrenal ACTH in hyperplastic tissue are considered mechanisms that regulate hypercortisolism in PMAH. Additionally, germline ARMC5 mutations have been described as the most frequent genetic abnormality found in patients diagnosed with PMAH. Previous functional studies analyzed ARMC5 role using H295R cells. Therefore, we investigated the role of ARMC5 in cell cultures obtained from PMAH nodules containing steroidogenic cells, aberrant receptors and intra-adrenal ACTH...
July 1, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28676275/testicular-adrenal-rest-tumor-tart-in-congenital-adrenal-hyperplasia
#12
Hatice Ozisik, Banu Sarer Yurekli, Ilgin Yildirim Simsir, Ilker Altun, Utku Soyaltın, Ezgi Guler, Huseyin Onay, Banu Sarsik, Fusun Saygili
Congenital adrenal hyperplasia is one of the most common autosomal recessive genetic disorders. Testicular adrenal tumors are significant complications of congenital adrenal hyperplasia. We would like to present two patients of testicular adrenal rest tumors. Patient 1 24 year-old male, he was diagnosed with congenital adrenal hyperplasia at the age of 8 due to precocious puberty. He received hydro-cortisone treatment until the age of 18. Testicular mass had been detected and right radical orchiectomy had been applied 6 months ago and reported as testicular adrenal rest tumor...
July 1, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28669219/the-prevalence-of-non-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-russian-women-with-hyperandrogenism
#13
Elena Grodnitskaya, Mark Kurtser
The aim of the study was to determine the prevalence of non-classic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase (21-OH) deficiency among hyperandrogenic women in a Russian population and to evaluate diagnostic value of basal serum 17-hydroxyprogesterone (17-OHP) level to diagnose this disease. A total of 800 consecutive Caucasian women presenting with elevation of at least one serum androgen and/or manifestation of one of the clinical androgenic symptoms were prospectively recruited and evaluated by basal 17-OHP...
July 3, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28666938/death-of-adrenocortical-cells-during-murine-acute-t-cruzi-infection-is-not-associated-with-tnf-r1-signaling-but-mostly-with-the-type-ii-pathway-of-fas-mediated-apoptosis
#14
Ana R Pérez, Flavia Lambertucci, Florencia B González, Eduardo A Roggero, Oscar A Bottasso, Juliana de Meis, Maria T Ronco, Silvina R Villar
Earlier studies from our laboratory demonstrated that acute experimental Trypanosoma cruzi infection promotes an intense inflammation along with a sepsis-like dysregulated adrenal response characterized by normal levels of ACTH with raised glucocorticoid secretion. Inflammation was also known to result in adrenal cell apoptosis, which in turn may influence HPA axis uncoupling. To explore factors and pathways which may be involved in the apoptosis of adrenal cells, together with its impact on the functionality of the gland, we carried out a series of studies in mice lacking death receptors, such as TNF-R1 (C57BL/6-(Tnfrsf1a tm1Imx) or TNF-R1(-/-)) or Fas ligand (C57BL/6 Fas-deficient lpr mice), undergoing acute T...
June 27, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28644547/a-genetic-epidemiology-study-of-congenital-adrenal-hyperplasia-in-italy
#15
Alessandro Gialluisi, Soara Menabò, Lilia Baldazzi, Letizia Casula, Antonella Meloni, Maria Carla Farci, Stefano Mariotti, Luisa Balestrino, Rita Ortolano, Stefania Murru, Carlo Carcassi, Sandro Loche, Antonio Balsamo, Giovanni Romeo
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) serum levels, showing high type I error rate and low sensitivity to mild CAH forms. Here, we used an epidemiological approach, which estimates the allelic frequency (q) of an autosomal recessive disorder using the proportion of homozygous patients, the mutational spectrum and the inbreeding coefficient in a sample of affected individuals...
June 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28641572/a-child-with-hypertension-and-ambiguous-genitalia-an-uncommon-variant-of-congenital-adrenal-hyperplasia-a-case-report
#16
Vivek Pant, Suman Baral, Bishal Shrestha, Arjun Tumbapo
BACKGROUND: Deficiency in 11β-hydroxylase as a cause of congenital adrenal hyperplasia is uncommon. It should be considered in the differential diagnosis of hypertension with virilization in any prepubescent child. CASE PRESENTATION: A 12-year-old Asian boy from eastern Nepal presented with pain in his abdomen and hypertension. He was raised as a male but had absent testicles since birth and had precocious puberty. Plasma testosterone, follicle-stimulating hormone, and luteinizing hormone were below baseline level...
June 23, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28640966/linking-the-degree-of-virilization-in-females-with-congenital-adrenal-hyperplasia-to-genotype
#17
Semyon Gurgov, Kerlly J Bernabé, John Stites, Christopher M Cunniff, Karen Lin-Su, Diane Felsen, Maria I New, Dix P Poppas
Mutations of CYP21A2 variably decrease 21-hydroxylase activity and result in a spectrum of disease expressions in patients with congenital adrenal hyperplasia (CAH). We examined the association between CYP21A2 mutations and virilization (Prader score) in females with CAH. The study population included 187 CAH females with fully characterized CYP21A2 mutations. One hundred fifty-eight patients were sorted into groups by expected enzyme activity (percent of normal activity) of the less severely affected allele: (A) null, 0%; (B) I2G, 1%; (C) I172N, 2%; and (D) V281L, >2%...
June 22, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28639595/prenatal-diagnosis-of-steroid-21-hydroxylase-deficient-congenital-adrenal-hyperplasia-experience-from-a-tertiary-care-centre-in-india
#18
Sudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain, Deepika Deka, Pankaj Sharma, Yves Morel, Madhulika Kabra
BACKGROUND & OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis...
February 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#19
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28637490/lipoid-congenital-adrenal-hyperplasia-by-steroidogenic-acute-regulatory-protein-star-gene-mutation-in-an-italian-infant-an-uncommon-cause-of-adrenal-insufficiency
#20
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa
BACKGROUND: Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survival. Classic lipoid congenital adrenal hyperplasia is relatively common in Japan and Korea but extremely rare in Caucasian populations...
June 20, 2017: Italian Journal of Pediatrics
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