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https://www.readbyqxmd.com/read/29342266/causes-patterns-and-severity-of-androgen-excess-in-1205-consecutively-recruited-women
#1
Yasir S Elhassan, Jan Idkowiak, Karen Smith, Miriam Asia, Helena Gleeson, Rachel Webster, Wiebke Arlt, Michael W O'Reilly
Context: Androgen excess in women is predominantly due to underlying polycystic ovary syndrome (PCOS). However there is a lack of clarity regarding patterns and severity of androgen excess that should be considered predictive of non-PCOS pathology. Objective: We examined the diagnostic utility of simultaneous measurement of serum dehydroepiandrosterone sulfate (DHEAS), androstenedione (A4) and testosterone (T) to delineate biochemical signatures and cut-offs predictive of non-PCOS disorders in women with androgen excess...
January 12, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29339528/gonadal-function-in-adult-male-patients-with-congenital-adrenal-hyperplasia
#2
Manon Engels, Katharina Gehrmann, Henrik Falhammar, Emma A Webb, Anna Nordenstrom, Fred Sweep, Paul N Span, Antonius Eduard van Herwaarden, Julia Rohayem, Annette Richter-Unruh, Claire Bouvattier, Birgit Koehler, Barbara B Kortmann, Wiebke Arlt, Nel Roeleveld, Nicole Reisch, Nike Stikkelbroeck, Hedi L Claahsen-van der Grinten
CONTEXT: Current knowledge on gonadal function in Congenital Adrenal Hyperplasia (CAH) is mostly limited to single center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH. OBJECTIVE: To determine gonadal function in men with CAH within the European "dsd-LIFE" cohort. DESIGN: Cross-sectional clinical outcome study, including retrospective data from medical records...
January 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29338783/children-with-premature-pubarche-is-an-alterated-neonatal-17-ohp-screening-test-a-predictive-factor
#3
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot, Franco Antoniazzi
BACKGROUND: Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature pubarche. METHODS: We evaluated all infants born between 2001 and 2014 with premature pubarche...
January 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29330019/parental-decisional-regret-and-views-about-optimal-timing-of-female-genital-restoration-surgery-in-congenital-adrenal-hyperplasia
#4
Konrad M Szymanski, Benjamin Whittam, Martin Kaefer, Heather Frady, Jessica T Casey, Vi T Tran, Mark P Cain, Richard C Rink
PURPOSE: The role of female genital restoration surgery (FGRS) in girls with congenital adrenal hyperplasia (CAH) is controversial, with no long-term parent-reported outcomes available. Decisional regret (DR) affects most parents after their children's treatment of pediatric conditions, including hypospadias. We aimed to assess parental DR after FGRS in infancy or toddlerhood and explore optimal timing for surgery. MATERIALS AND METHODS: One-hundred and six parents of females with CAH undergoing FGRS before 3 years old and followed at our institution (1999-2017) were invited to enroll online...
December 28, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29330018/testicular-adrenal-rest-tumor-screening-and-fertility-counseling-among-males-with-congenital-adrenal-hyperplasia
#5
Monika Chaudhari, Emilie K Johnson, Daniel DaJusta, Leena Nahata
BACKGROUND: Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation...
December 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29318470/gendered-peer-involvement-in-girls-with-congenital-adrenal-hyperplasia-effects-of-prenatal-androgens-gendered-activities-and-gender-cognitions
#6
Sheri A Berenbaum, Adriene M Beltz, Kristina Bryk, Susan McHale
A key question in understanding gender development concerns the origins of sex segregation. Children's tendencies to interact with same-sex others have been hypothesized to result from gender identity and cognitions, behavioral compatibility, and personal characteristics. We examined whether prenatal androgen exposure was related to time spent with boys and girls, and how that gendered peer involvement was related to sex-typed activities and gender identity and cognitions. We studied 54 girls with congenital adrenal hyperplasia (CAH) aged 10-13 years varying in degree of prenatal androgen exposure: 40 girls with classical CAH (C-CAH) exposed to high prenatal androgens and 14 girls with non-classical CAH (NC-CAH) exposed to low, female-typical, prenatal androgens...
January 9, 2018: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/29316814/biology-of-the-adrenal-gland-cortex-obviates-effective-use-of-adeno-associated-virus-vectors-to-treat-hereditary-adrenal-disorders
#7
Sandra Markmann, Bishnu P De, Jasmine Reid, Clarisse Jose, Jonathan B Rosenberg, Philip Leopold, Stephen M Kaminsky, Dolan Sondhi, Odelya E Pagovich, Ronald G Crystal
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000-1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Cardinal phenotypic features of CAH include genital ambiguity and sexual precocity, and in severe cases, neonatal salt loss and death. Current standard of care consists of life-long oral steroid replacement to reverse the cortisol deficiency. Although significant advances in the treatment of CAH have been made, the burden of a life-long therapeutic intervention is not ideal for quality of life...
January 9, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29315709/successful-fertility-outcome-in-a-woman-with-17%C3%A9-hydroxylase-deficiency
#8
Henrik Falhammar
17ɑ-hydroxylase deficiency (17OHD) is a rare variant of congenital adrenal hyperplasia (CAH) due to mutations in the CYP17A1 gene.1, 2 This gene encodes an enzyme that expresses both 17α-hydroxylase and 17,20-lyase activities affecting both adrenal and gonadal sex steroid production.1 Due to the location of the enzyme in the steroidogenic pathway impairment results in elevated corticosterone, deoxycorticosterone and progesterone together with low levels of cortisol, 11-deoxycortisol, dehydroepiandrosterone sulphate (DHEAS) and 17-hydroxyprogesterone...
January 6, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29315077/improved-medical-alert-id-ownership-and-utilization-in-youth-with-congenital-adrenal-hyperplasia-following-a-parent-educational-intervention
#9
Alaina P Vidmar, Jonathan F Weber, Christina M Koppin, Roshanak Monzavi, Mimi S Kim
BACKGROUND: Classical congenital adrenal hyperplasia (CAH) is a potentially life-threatening condition, and adrenal crisis is a major cause of morbidity and mortality in affected children. Medical-alert identification (ID) could prevent complications of adrenal crisis by identifying the need for time-sensitive, critical treatment. Our objectives were to evaluate usage of medical-alert IDs by CAH youth, ownership and awareness of IDs amongst their parents, and the effect of an in-clinic educational intervention on ID utilization...
January 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29277706/androgen-excess-is-due-to-elevated-11-oxygenated-androgens-in-treated-children-with-congenital-adrenal-hyperplasia
#10
Clemens Kamrath, Lisa Wettstaedt, Claudia Boettcher, Michaela F Hartmann, Stefan A Wudy
Adrenal androgen excess is the hallmark of classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Recently, 11-oxygenated C19 steroids, a class of highly active adrenal-derived androgens, have been described in patients with CAH. The aim of our study was to elucidate the significance of 11-oxygenated androgens in children with CAH. We retrospectively analysed 190 daily urinary excretion rates of glucocorticoid-, 17α-hydroxyprogesterone (17OHP)-, and androgen metabolites determined by gas chromatography-mass spectrometry of 99 children aged 3...
December 23, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29246515/complex-association-of-sex-hormones-on-left-ventricular-systolic-function-insight-into-sexual-dimorphism
#11
Joe-Elie Salem, Lee S Nguyen, Nadjib Hammoudi, Gisèle Preud'homme, Jean-Sebastien Hulot, Monique Leban, Christian Funck-Brentano, Philippe Touraine, Richard Isnard, Anne Bachelot
BACKGROUND: Normal values of left ventricular ejection fraction (LVEF) and absolute values of global longitudinal strain (GLS) are lower in men than in women. Data concerning the association of sex hormone levels on these left ventricular systolic function surrogates are scarce. The aim of this study was to determine the association of sex hormones with systolic left ventricular function in healthy subjects and patients with congenital adrenal hyperplasia (CAH) as a model of testosterone dysregulation...
December 13, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29232353/improving-pediatric-preparedness-in-critical-access-hospital-emergency-departments-impact-of-a-longitudinal-in-situ-simulation-program
#12
Jessica H Katznelson, Jiangxia Wang, Martha W Stevens, William A Mills
OBJECTIVES: Critical access hospitals (CAH) see few pediatric patients. Many of these hospitals do not have access to physicians with pediatric training. We sought to evaluate the impact of an in situ pediatric simulation program in the CAH emergency department setting on care team performance during resuscitation scenarios. METHODS: Five CAHs conducted 6 high-fidelity pediatric simulations over a 12-month period. Team performance was evaluated using a validated 35-item checklist representing commonly expected resuscitation team interventions...
January 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29230843/cardiac-function-in-pediatric-patients-with-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#13
Christiaan F Mooij, Milanthy S Pourier, Gert Weijers, Chris L de Korte, Zina Fejzic, Hedi L Claahsen van der Grinten, Livia Kapusta
BACKGROUND: Hyperandrogenism and exogenous glucocorticoid excess may cause unfavorable changes in the cardiovascular risk profile of patients with congenital adrenal hyperplasia (CAH). OBJECTIVE: To evaluate the cardiac function in pediatric patients with CAH. PATIENTS AND METHODS: 27 pediatric patients with CAH, aged 8-16 years, were evaluated by physical examination, electrocardiogram (ECG), conventional echocardiography, tissue Doppler imaging and two-dimensional (2D) myocardial strain (rate) imaging...
December 11, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29223670/cystourethroscopy-versus-contrast-studies-in-urogenital-sinus-and-cloacal-anomalies-in-children
#14
Khaled Ashour, Sameh Shehata, Ahmed Osheba
BACKGROUND: Cloacal malformation is a spectrum of diseases affecting females, resulting in abnormal confluence of the urinary system, genital system, and/or gastrointestinal system. Proper reconstruction depends mainly on accurate preoperative illustration of the abnormal anatomy. Among the various modalities to delineate the urogenital sinus and the distances to confluence, lies the radiological contrast study, as well as the preoperative diagnostic cystourethroscopy. AIM OF THE STUDY: The aim of this study was to compare the accuracy of the contrast study and diagnostic cystourethroscopy in the demonstration of the exact changes in anatomy resulting from urogenital sinus / cloacal abnormalities...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29221395/reassigning-the-cah-11%C3%AE-%C3%A2-21%C3%AE-vibronic-transition-with-cad
#15
J Condoluci, S Janardan, A T Calvin, R Rugango, G Shu, C D Sherrill, K R Brown
We observe vibronic transitions in CaD+ between the 11Σ and 21Σ electronic states by resonance enhanced multiphoton photodissociation spectroscopy in a Coulomb crystal. The vibronic transitions are compared with previous measurements on CaH+. The result is a revised assignment of the CaH+ vibronic levels and a disagreement with multi-state-complete-active-space second-order perturbation theory theoretical calculations by approximately 700 cm-1. Updated high-level coupled-cluster calculations that include core-valence correlations reduce the disagreement between theory and experiment to 300 cm-1...
December 7, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/29213133/plasma-metabolomic-profile-varies-with-glucocorticoid-dose-in-patients-with-congenital-adrenal-hyperplasia
#16
Mohammad A Alwashih, David G Watson, Ruth Andrew, Roland H Stimson, Manal Alossaimi, Gavin Blackburn, Brian R Walker
Glucocorticoid replacement therapy is the mainstay of treatment for congenital adrenal hyperplasia (CAH) but has a narrow therapeutic index and dose optimisation is challenging. Metabolomic profiling was carried out on plasma samples from 117 adults with 21-hydroxylase deficiency receiving their usual glucocorticoid replacement therapy who were part of the CaHASE study. Samples were profiled by using hydrophilic interaction chromatography with high resolution mass spectrometry. The patients were also profiled using nine routine clinical measures...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29201068/gender-identity-in-patients-with-congenital-adrenal-hyperplasia
#17
Maryam Razzaghy-Azar, Sakineh Karimi, Elham Shirazi
Background: Sex assignment in infancy for patients with disorder of sex development (DSD) is a challenging problem. Some of the patients with congenital adrenal hyperplasia (CAH) have DSD that may affect their gender identity. Objectives: The study aimed to assess gender identity in patients with CAH. Methods: In this study, 52 patients with CAH, including 22 prepubertal children and 30 adolescents and adults, were assessed using two separate gender identity questionnaires for children and adults based on the criteria of diagnostic and statistical manual of mental disorders, 5th edition...
July 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29200252/fetal-adrenal-gland-enlargement-prenatal-and-postnatal-management
#18
(no author information available yet)
BACKGROUND: The enlargement of suprarenal gland is related to preterm birth and the birth weight. The ultrasound measurement of fetal adrenal gland volume may identify women at risk for impending preterm birth. The aim of our study was to investigate the newborns in the region of western Slovakia followed up due to suprarenal gland enlargement. To set the ratio of prenatally diagnosed suprarenal gland enlargment, postnatal managment and treatment and interventions. The newborns with congenital adrenal hyperplasia were excluded...
November 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29176024/how-often-are-clinicians-performing-genital-exams-in-children-with-disorders-of-sex-development
#19
Stefani S Tica, Erica A Eugster
BACKGROUND: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic. METHODS: Medical records of children with DSD and AG seen at one large academic center since 2007 were reviewed. Data analyzed included diagnosis, sex of rearing, age, initial or follow up visit, number of individuals present and sex of the pediatric endocrinologist...
November 27, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29165577/quantitative-mri-brain-in-congenital-adrenal-hyperplasia-in-vivo-assessment-of-the-cognitive-and-structural-impact-of-steroid-hormones
#20
Emma A Webb, Lucy Elliott, Dominic Carlin, Martin Wilson, Kirsty Hall, Jennifer Netherton, Julie Reed, Tim G Barrett, Vijay Salwani, Jon D Clayden, Wiebke Arlt, Nils Krone, Andrew C Peet, Amanda G Wood
Context: Brain white matter hyper-intensities are seen on routine clinical imaging in 46% of adults with congenital adrenal hyperplasia (CAH). The extent and functional relevance of these abnormalities have not been studied using quantitative MRI analysis. Objective: To examine white matter microstructure, neural volumes and CNS metabolites in CAH due to 21-hydroxylase deficiency (21OHD) and to determine whether identified abnormalities are associated with cognition, glucocorticoid and androgen exposure...
November 20, 2017: Journal of Clinical Endocrinology and Metabolism
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