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Congenital adrenal hyperplasia

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https://www.readbyqxmd.com/read/29046104/how-the-child-s-gender-matters-for-families-having-a-child-with-congenital-adrenal-hyperplasia
#1
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
https://www.readbyqxmd.com/read/29038332/gata-transcription-factors-in-testicular-adrenal-rest-tumours
#2
Manon Engels, Paul N Span, Rod T Mitchell, Joop J T M Heuvel, Monica A Marijnissen-van Zanten, Antonius Eduard van Herwaarden, Christina A Hulsbergen-van de Kaa, Egbert Oosterwijk, Nike M Stikkelbroeck, Lee B Smith, Fred C G J Sweep, Hedi L Claahsen-van der Grinten
Testicular adrenal rest tumours (TARTs) are benign adrenal-like testicular tumours that frequently occur in male patients with congenital adrenal hyperplasia. Recently, GATA transcription factors have been linked to the development of TARTs in mice. The aim of our study was to determine GATA expression in human TARTs and other steroidogenic tissues. We determined GATA expression in TARTs (n=16), Leydig cell tumours (LCTs; n=7), adrenal (foetal (n=6) + adult (n=10)), and testis (foetal (n=13) + adult (n=8))...
October 16, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/29035424/cyp21a2-mutation-update-comprehensive-analysis-of-databases-and-published-genetic-variants
#3
Leandro Simonetti, Carlos D Bruque, Cecilia S Fernández, Belén Benavides-Mori, Marisol Delea, Jorge E Kolomenski, Lucía D Espeche, Noemí D Buzzalino, Alejandro D Nadra, Liliana Dain
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non-classical. Known allelic variants in the disease causing CYP21A2 gene are spread among different sources. Until recently, most variants reported have been identified in the clinical setting, which presumably bias described variants to pathogenic ones, as those found in the CYPAlleles database...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29029106/iatrogenic-cushing-syndrome-in-a-child-with-congenital-adrenal-hyperplasia-erroneous-compounding-of-hydrocortisone
#4
Julia E Barillas, Daniel Eichner, Ryan Van Wagoner, Phyllis W Speiser
Context: Patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) require lifelong treatment with glucocorticoids. In growing children the drug of choice is hydrocortisone. Commercially available hydrocortisone tablets do not conform to very low doses prescribed to infants and toddlers, and compounded hydrocortisone is often dispensed to meet therapeutic needs. However, safety, efficacy and uniformity of compounded products are not tested. We report a case of Cushing syndrome in a child with CAH who was inadvertently receiving excessive hydrocortisone in compounded form...
September 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29019745/imaging-of-nonmalignant-adrenal-lesions-in-children
#5
Kiran M Sargar, Geetika Khanna, Rebecca Hulett Bowling
The adrenal glands in children can be affected by a variety of benign lesions. The diagnosis of adrenal lesions can be challenging, but assessment of morphologic changes in correlation with the clinical presentation can lead to an accurate diagnosis. These lesions can be classified by their cause: congenital (eg, discoid adrenal gland, horseshoe adrenal gland, and epithelial cysts), vascular and/or traumatic (eg, adrenal hemorrhage), infectious (eg, granulomatous diseases), enzyme deficiency disorders (eg, congenital adrenal hyperplasia [CAH] and Wolman disease), benign neoplasms (eg, pheochromocytomas, ganglioneuromas, adrenal adenomas, and myelolipomas), and adrenal mass mimics (eg, extralobar sequestration and extramedullary hematopoiesis)...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29017204/-what-is-new-in-congenital-adrenal-hyperplasia
#6
Nicole Reisch
No abstract text is available yet for this article.
October 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28985742/health-related-quality-of-life-in-children-with-congenital-adrenal-hyperplasia
#7
Alyssa Halper, Mary C Hooke, Maria Teresa Gonzalez-Bolanos, Nancy Vanderburg, Thang N Tran, Jane Torkelson, Kyriakie Sarafoglou
BACKGROUND: Children with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement and have daily intermittent hyper/hypocortisolemia and hyperandrogenemia. Health-related quality of life (HRQL) is important for understanding the impact the disease and therapy have on physical, mental, emotional, and social functioning. Little is known about HRQL in CAH. We compared HRQL in children with CAH to healthy norms and examined how these scores related to physiologic variables...
October 6, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28984262/the-unusual-story-of-an-infant-with-congenital-adrenal-hyperplasia
#8
Vandana Jain, Madhulika Kabra
No abstract text is available yet for this article.
September 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28984256/neonatal-endocrine-labomas-pitfalls-and-challenges-in-reporting-neonatal-hormonal-reports
#9
Sachin Chittawar, Deep Dutta, Deepak Khandelwal, Rajiv Singla
This review highlights pitfalls and challenges in interpreting neonatal hormone reports. Pre-analytical errors contribute to nearly 50% of all errors. Modern chemiluminescence assay are more accurate, have lower risk of Hook's effect, but continue to have problems of assay interference. Liquid chromatography mass spectroscopy is gold standard for most hormone assays. Neonatal hypoglycemia diagnostic cut-offs are lower than adults. Random growth hormone testing is of value in diagnosing growth hormone deficiency in neonates...
September 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28980354/sampling-and-energy-evaluation-challenges-in-ligand-binding-protein-design
#10
Jiayi Dou, Lindsey Doyle, Per Jr Greisen, Alberto Schena, Hahnbeom Park, Kai Johnsson, Barry L Stoddard, David Baker
The steroid hormone 17α-hydroxylprogesterone (17-OHP) is a biomarker for congenital adrenal hyperplasia and hence there is considerable interest in sensor development towards this compound. We used computational protein design to generate protein models with binding sites for 17-OHP containing an extended, nonpolar, shape-complementary binding pocket corresponding to the four-ring core of the compound, and hydrogen bonding residues at the base of the pocket to interact with carbonyl and hydroxyl groups at the more polar end of the ligand...
October 4, 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28965114/quality-of-life-in-children-with-disorders-of-sex-development
#11
Nalini M Selveindran, Syed Zulkifli Syed Zakaria, Muhammad Yazid Jalaludin, Rahmah Rasat
BACKGROUND/AIMS: Disorders of sex development (DSD) are a heterogeneous group of rare conditions. Evidence-based treatment is challenged by a lack of clinical longitudinal outcome studies. We sought to investigate the quality of life of children with DSD other than congenital adrenal hyperplasia. METHODS: The participants (aged 6-18 years) were 23 patients raised as males and 7 patients raised as females. Control data were obtained from representatives of the patients' siblings matched for age and gender...
September 29, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28962970/a-high-rate-of-novel-cyp11b1-mutations-in-saudi-arabia
#12
Ali S Alzahrani, Meshael Alswailem, A K Murugan, Doha Al-Humaida, Cameron P Capper, Richard J Auchus, Ebtesam Qasem, Ohoud Alzahrani, Afaf Al-Sagheir, Bassam Ben Abbas
Despite ethnic variation, 11 β-hydroxylase deficiency (11-β OHD) has generally been considered the second most common subtype of congenital adrenal hyperplasia (CAH). We report a high rate of novel mutations in this gene from Saudi Arabia. We studied 16 patients with 11-β OHD from 8 unrelated families. DNA was isolated from peripheral blood. The 9 exons and exon-intron boundaries of CYP11B1 were PCR-amplified and directly sequenced. The novel mutations were functionally characterized using subcloning, in vitro mutagenesis, cell transfection and 11-deoxycortisol: cortisol conversion assays...
September 26, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28960615/congenital-adrenal-hyperplasia-and-violation-of-newborn-screening-procedures
#13
Hitomi Odajima, Shigeharu Hosono, Kazunori Kayama, Kayo Yoshikawa, Shori Takahashi
No abstract text is available yet for this article.
September 28, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28956783/congenital-adrenal-hyperplasia-as-a-cause-of-adrenal-incidentaloma
#14
E Buitenwerf, T P Links, I P Kema, M L Haadsma, M N Kerstens
Congenital adrenal hyperplasia (CAH) can present as a benign adrenal tumour, which should be treated medically. The diagnosis of CAH must be considered in a patient presenting with adrenal incidentaloma in order to avoid unnecessary adrenalectomy. Urinary steroid profiling is a useful diagnostic tool to identify the presence of CAH.
September 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28954735/bcli-polymorphism-of-the-glucocorticoid-receptor-and-adrenal-crisis-in-primary-adrenal-insufficiency
#15
Kathrin Zopf, Kathrin Frey, Tina Kienitz, Manfred Ventz, Britta Bauer, Marcus Quinkler
CONTEXT: Patients with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) are at high risk of adrenal crisis (AC). Glucocorticoid sensitivity is at least partially genetically determined by polymorphisms of the glucocorticoid receptor (GR). OBJECTIVES: To determine if number of intercurrent illnesses and AC are associated with the GR gene polymorphism BclI in patients with PAI and CAH. DESIGN AND PATIENTS: This prospective, longitudinal study over 37...
September 27, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28939371/prenatal-androgen-exposure-and-children-s-aggressive-behavior-and-activity-level
#16
Debra Spencer, Vickie Pasterski, Sharon Neufeld, Vivette Glover, Thomas G O'Connor, Peter C Hindmarsh, Ieuan A Hughes, Carlo L Acerini, Melissa Hines
Some human behaviors, including aggression and activity level, differ on average for males and females. Here we report findings from two studies investigating possible relations between prenatal androgen and children's aggression and activity level. For study 1, aggression and activity level scores for 43 girls and 38 boys, aged 4 to 11years, with congenital adrenal hyperplasia (CAH, a genetic condition causing increased adrenal androgen production beginning prenatally) were compared to those of similarly-aged, unaffected relatives (41 girls, 31 boys)...
September 19, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/28938470/genetic-disruption-of-21-hydroxylase-in-zebrafish-causes-interrenal-hyperplasia
#17
Helen Eachus, Andreas Zaucker, James A Oakes, Aliesha Griffin, Meltem Weger, Tülay Güran, Angela Taylor, Abigail Harris, Andy Greenfield, Jonathan L Quanson, Karl-Heinz Storbeck, Vincent T Cunliffe, Ferenc Müller, Nils Krone
Congenital adrenal hyperplasia is a group of common inherited disorders leading to glucocorticoid deficiency. Most cases are caused by 21-hydroxylase deficiency (21OHD). The systemic consequences of imbalanced steroid hormone biosynthesis due to severe 21OHD remains poorly understood. Therefore, we have developed a zebrafish model for 21OHD, which focuses on the impairment of glucocorticoid biosynthesis. A single 21-hydroxylase gene (cyp21a2) is annotated in the zebrafish genome based on sequence homology. Our in silico analysis of the Cyp21a2 protein sequence suggests a sufficient degree of similarity for the usage of zebrafish cyp21a2 to model aspects of human 21OHD in vivo...
September 13, 2017: Endocrinology
https://www.readbyqxmd.com/read/28931575/case-report-of-clitoral-hypertrophy-in-2-extremely-premature-girls-with-an-ovarian-cyst
#18
Anne-Laure Nerré, Pierre Bétrémieux, Sylvie Nivot-Adamiak
Neonatal clitoromegaly is mainly attributed to in utero androgen exposure secondary to congenital adrenal hyperplasia. We report on 2 extremely premature girls with clitoromegaly, increased androgen levels, no salt wasting syndrome, and ovarian cyst. In case 1, the cyst liquid was aspired during ovarian hernia surgery and revealed high androgen levels. After aspiration, serum androgen levels decreased, as did clitoral size. In case 2, an ovarian cyst was seen on pelvic ultrasound. Aspiration was not indicated...
October 2017: Pediatrics
https://www.readbyqxmd.com/read/28923284/fertility-outcome-and-information-on-fertility-issues-in-individuals-with-different-forms-of-disorders-of-sex-development-findings-from-the-dsd-life-study
#19
Jolanta Słowikowska-Hilczer, Angelica Lindén Hirschberg, Hedi Claahsen-van der Grinten, Nicole Reisch, Claire Bouvattier, Ute Thyen, Peggy Cohen Kettenis, Robert Roehle, Birgit Köhler, Anna Nordenström
OBJECTIVE: To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. DESIGN: A cross-sectional multicenter study, dsd-LIFE. SETTING: Not applicable. PATIENT(S): A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated...
September 15, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28917585/total-urogenital-sinus-mobilization-for-ambiguous-genitalia
#20
Vinicius Menezes Jesus, Francisco Buriti, Rodrigo Lessa, Maria Betânia Toralles, Luciana Barros Oliveira, Ubirajara Barroso
INTRODUCTION: Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has become incorporated by most surgeons. However, the proximity of the urethral sphincter prompts concern over urinary incontinence, especially for full mobilization of the urogenital sinus...
August 24, 2017: Journal of Pediatric Surgery
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