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Congenital adrenal hyperplasia

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https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#1
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28819757/development-of-cyp21a2-genotyping-assay-for-the-diagnosis-of-congenital-adrenal-hyperplasia
#2
Mayara Jorgens Prado, Simone Martins de Castro, Cristiane Kopacek, Maricilda Palandi de Mello, Thaiane Rispoli, Tarciana Grandi, Cláudia Maria Dornelles da Silva, Maria Lucia Rosa Rossetti
BACKGROUND: Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all congenital adrenal hyperplasia cases. This deficiency is screened by measuring levels of 17-hydroxyprogesterone, which may vary, causing false positive or false negative results. In order to assist the diagnosis, molecular methodologies have been employed. This work aimed to perform genotyping assays to detect mutations in the CYP21A2 gene and compare the findings with other population studies...
August 17, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28814383/high-resolution-accurate-mass-hram-mass-spectrometry-urine-steroid-profiling-in-the-diagnosis-of-adrenal-disorders
#3
Jolaine M Hines, Irina Bancos, Cristian Bancos, Raman D Singh, Aditya V Avula, William F Young, Stefan K Grebe, Ravinder J Singh
BACKGROUND: Steroid profiling is a promising diagnostic tool for those with adrenal tumors, Cushing syndrome (CS), and disorders of steroidogenesis. Our objective was to develop a multiple-steroid assay using liquid-chromatography, high-resolution, accurate-mass mass spectrometry (HRAM LC-MS) and to validate the assay in patients with various adrenal disorders. METHODS: We collected 24-h urine samples from 114 controls and 71 patients with adrenal diseases. An HRAM LC-MS method was validated for quantitative analysis of 26 steroid metabolites in hydrolyzed urine samples...
August 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28782322/congenital-adrenal-hyperplasia-with-11-beta-hydroxylase-deficiency-with-testicular-adrenal-rest-tumour
#4
Archana Sonawale, Anjali Rajadhyaksha, Siddharth Warrier, Rohit Shriwastav, Nilakshi H Sabnis
Congenital adrenal hyperplasia refers to the non-malignant enlargement of adrenal gland tissue as a result of deficiency of one of several enzymes involved in adrenal hormone synthesis, secondary to a genetic mutation. 11 - Beta hydroxylase is one such enzyme, and its deficiency is a rare cause of Congenital Adrenal Hyperplasia. We describe the case of an 18-year old man who presented to us with an acute right ganglio-capsular bleed, hypertension and bilateral scrotal swelling. Investigations revealed hypokalemia, and normal renal and cardiac functions...
June 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28771930/parental-management-of-adrenal-crisis-in-children-with-congenital-adrenal-hyperplasia
#5
Louise Fleming, Kathleen Knafl, George Knafl, Marcia Van Riper
PURPOSE: Congenital adrenal hyperplasia (CAH) requires parents to inject their child with hydrocortisone intramuscularly during times of illness and adrenal crisis. The purpose of this study was to describe circumstances surrounding adrenal crisis events in children with CAH; to explore parents' perceptions of the consequences of having a child with a life-threatening condition; and to examine a relationship between parents' perceived management ability and the impact CAH has on the family...
August 3, 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28771762/cognitive-impairment-in-adolescents-and-adults-with-congenital-adrenal-hyperplasia
#6
Leif Karlsson, Anton Gezelius, Anna Nordenström, Tatja Hirvikoski, Svetlana Lajic
OBJECTIVE: Impaired cognition has been reported in patients with congenital adrenal hyperplasia (CAH), although the findings have been conflicting. It has been hypothesized that the major causes of the deficits are prenatal hormonal imbalances and/or excessive glucocorticoid treatment. DESIGN, PATIENTS AND SETTING: This was an observational study comparing cognition in CAH patients (n=55) to control subjects from the general population (n=58), aged 16-33 years. Nine CAH subjects had been treated prenatally with dexamethasone...
August 3, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28759390/cholestasis-and-hepatic-iron-deposition-in-an-infant-with-complex-glycerol-kinase-deficiency
#7
Diana Montoya-Williams, Meredith Mowitz
We present a 6-week-old male infant with persistent hyperbilirubinemia, hypertriglyceridemia, elevated creatine kinase levels, and transaminitis since the second week of life. When he developed hyperkalemia, clinical suspicion was raised for adrenal insufficiency despite hemodynamic stability. A full endocrine workup revealed nearly absent adrenocorticotropic hormone. Coupled with his persistent hypertriglyceridemia (peak of 811 mg/dL) and elevated creatine kinase levels (>20 000 U/L), his corticotropin level lead to a clinical diagnosis of complex glycerol kinase deficiency (GKD), also known as Xp21 deletion syndrome...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/28759182/intima-media-thickness-of-common-carotids-and-abdominal-aorta-in-children-and-adolescents-with-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-relation-to-their-genotypes
#8
Dominika Janus, Malgorzata Wojcik, Katarzyna Tyrawa, Magdalena Janeczko, Mirosław Bik-Multanowski, Jerzy B Starzyk
BACKGROUND: Patients with congenital adrenal hyperplasia (CAH) are at risk of vascular and metabolic complications due to steroid therapy and increased adrenal androgens exposure. OBJECTIVE: of the study was to evaluate the relation between patient's genotype and (1) intima media thickness of abdominal aorta (AIMT) and common carotid arteries (CIMT) and (2) metabolic profile. MATERIAL AND METHODS: In 71 patients (27 boys) aged from 1.5 to 17...
July 2, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28731586/pregnancy-in-women-with-non-classic-congenital-adrenal-hyperplasia-time-to-conceive-and-outcome
#9
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
#10
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
#11
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
#12
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/28696998/evaluation-and-management-of-vaginoplasty-complications
#13
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/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
#14
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/28676275/testicular-adrenal-rest-tumor-tart-in-congenital-adrenal-hyperplasia
#15
Hatice Ozisik, Banu Sarer Yurekli, Ilgin Yildirim Simsir, Ilker Altun, Utku Soyaltin, 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
#16
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/28644547/a-genetic-epidemiology-study-of-congenital-adrenal-hyperplasia-in-italy
#17
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
#18
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
#19
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
#20
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
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