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adrenal hyperplasia

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https://www.readbyqxmd.com/read/28207417/adrenarche-unmasks-compound-heterozygous-3%C3%AE-hydroxysteroid-dehydrogenase-deficiency-c-244g-a-p-ala82thr-and-the-novel-931c-t-p-gln311-variant-in-a-non-salt-wasting-severely-undervirilised-46xy
#1
Stephanie Louise Teasdale, Adam Morton
3β-Hydroxysteroid dehydrogenase type II deficiency (3βHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28199739/obesity-in-children-with-congenital-adrenal-hyperplasia-in-the-minnesota-cohort-importance-of-adjusting-body-mass-index-for-height-age
#2
Kyriakie Sarafoglou, Gregory P Forlenza, O Yaw Addo, Jennifer Kyllo, Aida Lteif, P C Hindmarsh, Anna Petryk, Maria Teresa Gonzalez-Bolanos, Bradley S Miller, William Thomas
OBJECTIVES: To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH), and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index for-height-age (BMIHA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. DESIGN: Longitudinal. PATIENTS: 194 children with CAH seen from 1970-2013: 124 salt-wasting (SW); 70 simple-virilizing (SV); 102 females...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28192635/risk-factors-for-hospitalization-of-children-with-congenital-adrenal-hyperplasia
#3
Ming Yang, Perrin C White
BACKGROUND AND OBJECTIVES: Patients with congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency are prone to potentially life-threatening adrenal crises. We tried to identify risk factors for post-diagnosis hospitalization for children with the salt wasting form of CAH. METHODS: We reviewed medical records of all children who presented to Children's Medical Center Dallas from 1999 to 2013 with congenital adrenal hyperplasia (ICD-9 code 255.2). RESULTS: 522 unique patients were coded for ICD-9 code of 255...
February 13, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28188961/high-serum-progesterone-associated-with-infertility-in-a-woman-with-nonclassic-congenital-adrenal-hyperplasia
#4
Yoshimasa Kawarai, Hiroshi Ishikawa, Tomoya Segawa, Shokichi Teramoto, Tomoaki Tanaka, Makio Shozu
Nonclassic congenital adrenal hyperplasia (NCAH) is an autosomal-recessive disorder caused by 21-hydroxylase deficiency and manifests as hirsutism and oligomenorrhea due to excess adrenal androgen and progesterone. We report a case of a woman with NCAH who showed continuous high serum progesterone levels in the follicular phase associated with impaired folliculogenesis. NCAH was diagnosed based on high 17-hydroxyprogesterone levels after rapid adrenocorticotropic hormone loading, and three heterozygous missense mutations in CYP21A2, encoding 21-hydroxylase, were identified...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28183214/appearance-of-a-thymic-mass-after-treatment-of-cushing-s-syndrome
#5
Alessandro P Delitala, Laura Olita, Carla Piras, Rossella Cosseddu, Giorgio Bagella, Giuseppe Fanciulli
A 23-year-old woman was referred to our center with hirsutism, acne, weight gain, weakness, and irregular menses. Laboratory tests revealed increased levels of cortisol and sex hormones, and reduced adrenocorticotropic hormone levels. The patient underwent a right adrenalectomy. Pathology of the resected right adrenal gland showed an adrenal carcinoma. Computed tomography 8 months after the surgery revealed a thymic mass that was not detected preoperatively. The frequency of rebound thymic hyperplasia after normalization of hypercortisolism is not known, but possibly as high as 40%...
February 2017: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/28169274/armc5-deletion-causes-developmental-defects-and-compromises-t-cell-immune-responses
#6
Yan Hu, Linjiang Lao, Jianning Mao, Wei Jin, Hongyu Luo, Tania Charpentier, Shijie Qi, Junzheng Peng, Bing Hu, Mieczyslaw Martin Marcinkiewicz, Alain Lamarre, Jiangping Wu
Armadillo repeat containing 5 (ARMC5) is a cytosolic protein with no enzymatic activities. Little is known about its function and mechanisms of action, except that gene mutations are associated with risks of primary macronodular adrenal gland hyperplasia. Here we map Armc5 expression by in situ hybridization, and generate Armc5 knockout mice, which are small in body size. Armc5 knockout mice have compromised T-cell proliferation and differentiation into Th1 and Th17 cells, increased T-cell apoptosis, reduced severity of experimental autoimmune encephalitis, and defective immune responses to lymphocytic choriomeningitis virus infection...
February 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28168953/stroke-disclosing-primary-aldosteronism-report-on-three-cases-and-review-of-the-literature
#7
Amina Nasri, Malek Mansour, Zeineb Brahem, Amel Kacem, Ahmed Abou Hassan, Hager Derbali, Meriem Messelmani, Jamel Zaouali, Ridha Mrissa
OBJECTIVES: There is a growing evidence of increased risk of cerebrovascular events in primary aldosteronism (PA). Nevertheless, acute neurologic ailment as presenting feature of PA is uncommon. Our aim is to highlight the diagnosis challenges in stroke unmasking PA and to discuss the underlying physiopathology and management dilemmas. MATERIALS AND METHODS: We hereby describe three consecutive rare cases of stroke revealing PA. All patients had brain imaging and thorough biological and morphological assessment to rule out other etiologies of stroke...
February 3, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28161392/-recommendations-for-the-diagnosis-and-treatment-of-classic-forms-of-21-hydroxylase-deficient-congenital-adrenal-hyperplasia
#8
Amparo Rodríguez, Begoña Ezquieta, José Igancio Labarta, María Clemente, Rafael Espino, Amaia Rodriguez, Aranzazu Escribano
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy...
February 1, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28145028/effects-of-steroidal-antiandrogen-or-5-alpha-reductase-inhibitor-on-prostate-tissue-hormone-content
#9
Yasuhiro Shibata, Seiji Arai, Yoshiyuki Miyazawa, Takahiro Shuto, Masashi Nomura, Yoshitaka Sekine, Hidekazu Koike, Hiroshi Matsui, Kazuto Ito, Kazuhiro Suzuki
BACKGROUND: The effects of a steroidal antiandrogen (AA) and 5-alpha-reductase inhibitor (5ARI) on prostate tissue hormone content and metabolism are not fully elucidated. The objective of this study is to investigate the hormone content and metabolism of the prostate tissues of patients treated with AA or 5ARI using the ultra-sensitive liquid chromatography-tandem mass spectrometry (LC-MS/MS) method. METHODS: Thirty-nine patients with benign prostatic hyperplasia (BPH) undergoing transurethral surgery were included...
February 1, 2017: Prostate
https://www.readbyqxmd.com/read/28138408/kidney-ultrasound-what-is-important-for-a-urologist
#10
REVIEW
Tomasz Szopiński, Elżbieta Keller, František Záťura
Kidney ultrasound is one of the basic procedures in the practice of a urologist. Apart from the location and the size, description of renal morphology should contain the thickness of the anterior lip parenchyma in a transverse section and the location of possible narrowings. Uneven outline of the kidney is a sign of past inflammatory conditions. In the case of the pelvicalyceal system dilation, it is advised to specify the dimensions of the pelvis and calyces. Convex shape of the calyces proves elevated pressure within the pelvicalyceal system...
December 2016: Journal of Ultrasonography
https://www.readbyqxmd.com/read/28126912/growth-hormone-with-aromatase-inhibitor-may-improve-height-in-cyp11b1-congenital-adrenal-hyperplasia
#11
Katherine Hawton, Sandra Walton-Betancourth, Gill Rumsby, Joseph Raine, Mehul Dattani
With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1 Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm...
January 26, 2017: Pediatrics
https://www.readbyqxmd.com/read/28115464/management-of-endocrine-disease-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-update-in-management-of-adult-patients-and-prenatal-treatment
#12
Anne Bachelot, Virginie Grouthier, Carine Courtillot, Jerome Dulon, Philippe Touraine
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by cortisol and in some cases aldosterone deficiency associated with androgen excess. Goals of treatment are to replace deficient hormones and control androgen excess, while avoiding the adverse effects of exogenous glucocorticoid (GC). Over the last 5 years, cohorts of adults with CAH due to 21hydroxylase deficiency from Europe and the United States have been described, allowing us to have a better knowledge of long-term complications of the disease and its treatment...
January 23, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28112592/testicular-enlargement-in-a-pre-pubertal-boy-with-adrenocortical-tumour
#13
Manassawee Korwutthikulrangsri, Duangkamon Wattanatranon, Sumate Teeraratkul, Piyathida Wijarn, Pat Mahachoklertwattana, Preamrudee Poomthavorn
Adrenocortical tumours are rare in children. Virilisation caused by overproduction of adrenal androgens is the most common presentation. The testes of pre-pubertal boys with this tumour are usually small or of pre-pubertal size. A 4.8-year-old boy with an adrenocortical tumour and symmetrical pubertal-sized testes is reported. The serum testosterone level was 204 nmol/L (<0.7), dehydro-epiandrosterone-sulphate 56.7 μmol/L (<1.5) and luteinising and follicle-stimulating hormones were at suppressed levels...
January 23, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28111697/assessment-of-the-aldosteronona-resolution-score-as-a-predictive-resolution-score-of-hypertension-after-adrenalectomy-for-aldosteronoma-in-french-patients
#14
Ludwig Pasquier, Medhi Kirouani, Florian Fanget, Claire Nomine, Cécile Caillard, Vincent Arnault, Jean-Baptiste Finel, Niki Christou, Muriel Mathonnet, Christophe Trésallet, Antoine Hamy, Loïc de Calan, Laurent Brunaud, Fabrice Menegaux, Jean Christophe Lifante, Jean Benoit Hardouin, Delphine Drui, Éric Mirallié, Claire Blanchard
PURPOSE: Aldosteronoma Resolution Score (ARS) is a predictive score for cure of hypertension after adrenalectomy for hyperaldosteronism and has been validated in American patients. The aim of the study was to validate this score in a French population. METHOD: Data concerning patients operated from 2002 to 2015 in 7 French University Hospitals were retrospectively collected. Diagnosis of Aldosterone-producing adenoma (APA) was confirmed with clinical and biochemical hyperaldosteronism and adrenal nodule on CT scan...
January 22, 2017: Langenbeck's Archives of Surgery
https://www.readbyqxmd.com/read/28102088/hyperandrogenism-in-a-postmenopausal-woman-a-rare-case-of-ectopic-adrenal-cortical-gland
#15
Antonella Guarino, Luisa Di Benedetto, Valentina Giovanale, Gian Luca Rampioni Vinciguerra, Antonella Stoppacciaro, Filippo Bellati, Donatella Caserta
Most frequent causes of androgenic manifestation are Cushing's syndrome, PCO, benign and malignant androgen-secreting non adrenal tumors and iatrogenic hirsutism. Hyperplasia or neoplasms of ectopic adrenocortical gland are rare. We report a case of a 63-year old female with hirsutism and alopecia. Laboratory data highlighted increased levels of androgens. Diagnostic imaging revealed normal morphology of adrenocortical gland and ovaries. In view of the clinical picture and suspected diagnosis of extra-adrenal cause, she underwent bilateral salpingo-oophorectomy...
January 19, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28100629/impact-of-food-alcohol-and-ph-on-modified-release-hydrocortisone-developed-to-treat-congenital-adrenal-hyperplasia
#16
Nayananjani Karunasena, Daniel Margetson, Greg Neal, Martin Whitaker, Richard J Ross
BACKGROUND: We developed a modified-release hydrocortisone, Chronocort®, to replace the cortisol rhythm in patients with congenital adrenal hyperplasia. Food, alcohol and pH affect drug absorption and it is important to assess their impact when replicating a physiological rhythm. SUBJECTS AND METHODS: In vitro dissolution to study impact of alcohol and pH on Chronocort®. A Phase 1, three-period, cross over study in 18 volunteers to assess the impact of food on Chronocort® and to compare bioavailability to immediate-release hydrocortisone...
January 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28095810/neonatal-screening-for-congenital-adrenal-hyperplasia-in-southern-brazil-a-population-based-study-with-108-409-infants
#17
Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão, Poli Mara Spritzer
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28089605/commentary-to-urinary-continence-outcome-following-vaginoplasty-in-patients-with-congenital-adrenal-hyperplasia
#18
David A Diamond
No abstract text is available yet for this article.
December 11, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28079539/preoperative-ketoconazole-therapy-for-primary-bilateral-adrenocorticotropic-hormone-independent-macronodular-adrenal-hyperplasia-syndrome
#19
Rukma Parthvi, Sunil Mehra
No abstract text is available yet for this article.
January 5, 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28073127/long-term-consequences-of-congenital-adrenal-hyperplasia-due-to-classic-21-hydroxylase-deficiency-in-adolescents-and-adults
#20
Ja Hye Kim, Jin-Ho Choi, Eungu Kang, Yoon-Myung Kim, Beom Hee Lee, Han-Wook Yoo
Background The management of congenital adrenal hyperplasia (CAH) from pediatric to adulthood is challenging to achieve optimal growth and puberty. This study characterizes the clinical outcomes of 21-hydroxylase deficiency. Methods 53 CAH patients were included (33 females, 15 and 18 patients with the salt-wasting [SW] and simple-virilizing [SV] forms; and 20 males, 16 and 4 patients with the SW and SV forms). We reviewed growth parameters, pubertal status, and long-term morbidities. Results In females, the age at pubertal onset and pubarche was 9...
January 10, 2017: Experimental and Clinical Endocrinology & Diabetes
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