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"Congenital Adrenal Hyperplasia"

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https://www.readbyqxmd.com/read/29029106/iatrogenic-cushing-syndrome-in-a-child-with-congenital-adrenal-hyperplasia-erroneous-compounding-of-hydrocortisone
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
https://www.readbyqxmd.com/read/28898882/hospitalisation-in-children-with-adrenal-insufficiency-and-hypopituitarism-is-there-a-differential-burden-between-boys-and-girls-and-between-age-groups
#18
R Louise Rushworth, Georgina L Chrisp, Benjamin Dean, Henrik Falhammar, David J Torpy
BACKGROUND/AIMS: To determine the burden of hospitalisation in children with adrenal insufficiency (AI)/hypopituitarism in Australia. METHODS: A retrospective study of Australian hospitalisation data. All admissions between 2001 and 2014 for patients aged 0-19 years with a principal diagnosis of AI/hypopituitarism were included. Denominator populations were extracted from national statistics datasets. RESULTS: There were 3,779 admissions for treatment of AI/hypopituitarism in patients aged 0-19 years, corresponding to an average admission rate of 48...
September 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28879650/vascular-and-cardiac-function-in-young-adults-with-classical-congenital-adrenal-hyperplasia
#19
Joanna Wierzbicka-Chmiel, Artur Chmiel, Sławomir Rychlik, Monika Ogrodowczyk-Bobik, Bogdan Marek, Dariusz Kajdaniuk
INTRODUCTION: Patients with classical congenital adrenal hyperplasia (CAH) have increased cardiovascular risk, but the vascular and cardiac function during longitudinal corticoids replacement therapy is not known thoroughly. MATERIAL AND METHODS: Cross-sectional study of 19 Caucasian adults with CAH (age 23.7 ± 3.8 years; twelve males) compared to 20 healthy volunteers matched for origin, sex, age, and body mass index (BMI). All of the participants were assessed for flow mediated dilatation of the brachial artery (FMD), intima-media thickness of the common carotid artery (cIMT) and common femoral artery (fIMT), standard echocardiography, and global longitudinal left ventricular function using two-dimensional speckle-tracking echocardiography (LSTE)...
September 7, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28879515/testicular-adrenal-rest-tumors-in-congenital-adrenal-hyperplasia-cross-sectional-study-of-51-croatian-male-patients
#20
Miroslav Dumic, Vlatko Duspara, Zorana Grubic, Sasa Kralik Oguic, Veselin Skrabic, Vesna Kusec
Testicular adrenal rest tumors (TARTs) are common cause of infertility in males with congenital adrenal hyperplasia (CAH). We studied the role of genotype and disease regulation on TART development, their impact on gonadal function, and frequency in 47 21-hydroxylase deficiency (21-OHD) and four 11-hydroxylase deficiency (11-OHD) male patients. Testicular ultrasound (TU), genotype, hormonal measurement in 51, and spermiogram in five patients were performed. TARTs were detected in 14 SW21-OHD and one 11-OHD patient: 1/8 patients aged <7 years (1...
September 6, 2017: European Journal of Pediatrics
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