Results 11 to 20 of about 29,100 (161)

Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing. [PDF]

Mol Genet Genomic Med
The overall genotype–phenotype concordance was found to be 73.1% (68/93). The expected concordance with the SW form of the null (n = 12) and A (n = 51) groups is 91.6% and 88.2%, respectively. While the percentage of the expected clinical form of SV in patients in group B (n = 5) was 80%, the concordance for the expected clinical form of NC for group C
Atas N, Karaoglan M, Nacarkahya G.
europepmc   +2 more sources

Adrenal Insufficiency Associated Cardiomyopathy, From Molecule to Clinic: A Comprehensive Review. [PDF]

Health Sci Rep
ABSTRACT Background and Aim Adrenal insufficiency (AI), the lack of glucocorticoids (GCs) production or function with or without a lack of mineralocorticoids (MCs) and adrenal androgens, can result in uncommon but life‐threatening complications like shock, circulatory failure, syncope, arrhythmias, dilated cardiomyopathy (DCM), and congestive heart ...
Bazgir N, Soltani A, Mohajer Z, Tabari MAK, Eslami V.   +4 more
europepmc   +2 more sources

Semaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report [PDF]

Journal of Medical Case Reports
Background Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens.
Alaina P. Vidmar, Linus Kaiser, Matthew J. Martin, Stuart Abel, Aimee G. Kim, Madeleine Weitzner, Cynthia E. Muñoz, Lynda K. Fisher, Mimi S. Kim, Kamran Samakar   +9 more
doaj   +2 more sources

Pregnancy Outcomes in Women With Primary Adrenal Insufficiency: Data From a Multicentre Cohort Study. [PDF]

BJOG
ABSTRACT Objective To determine characteristics and pregnancy outcomes in women with primary adrenal insufficiency (PAI). Design Retrospective multicentre cohort study. Setting Twenty‐three maternity units in the UK and Ireland. Sample Seventy‐nine women with PAI who had 101 pregnancies. Method Retrospective chart analysis.
Cauldwell M, Steer PJ, Ahsan M, Ali A, Ashiq S, Ashworth R, Basha D, Chong H, Corbett GA, Dunne F, Hill A, Gajewska-Knapik K, Jakes A, McLaren D, Kinsella T, Lee T, Levy M, MacKiliop L, McAuliffe FM, Mohan A, Mumby C, Nana M, Napier C, Neuberger F, Newman C, Oosterhouse T, Shard A, Shehata H, Stocker L, Tomlinson JW, Beck A, Vaidya B, Wiles K, Williamson C, Zollner J, Ward E, Turner HE.   +36 more
europepmc   +2 more sources

Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]

, 2010
Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
core   +1 more source

Syrian females with congenital adrenal hyperplasia: a case series

Journal of Medical Case Reports, 2022
Background One of the most common types of congenital adrenal hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by cortisol insufficiency, is accompanied by prenatal androgen excess causing ...
Nada Dehneh, Rami Jarjour, Sahar Idelbi, Assad Alibrahem, Sahar Al Fahoum   +4 more
doaj   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Louise A. Metherell, Danielle Naville, George Halaby, Martine Begeot, Angela Huebner, Gudrun Nürnberg, Peter Nürnberg, Jane Green, Jeremy W. Tomlinson, Nils P. Krone, Lin Lin, Michael Racine, Dan M. Berney, John C. Achermann, Wiebke Arlt, Adrian J. L. Clark, Clark, Tsigos, Cooray, Metherell, Génin, Fujieda, Stocco, Bhangoo, Qiu, Chen, Nakae, Korsch, Flück, Bose, Fujieda, Okuyama, Baker, O'Riordan, Miller, Miller, Aya, Lin, Lin   +38 more
core   +1 more source

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Italian Journal of Pediatrics, 2017
Background Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of ...
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa   +6 more
doaj   +1 more source

Variations in the management of acute illness in children with congenital adrenal hyperplasia: An audit of three paediatric hospitals [PDF]

, 2018
Objective: Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Allolio, Bornstein, El-Maouche, Falhammar, Falhammar, Falhammar, Fleming, Gidlof, Gleeson, Hahner, Hahner, Huynh, Ishii, Kampmeyer, Khalid, Leblicq, Maguire, Merke, Neumann, Reisch, Rushworth, Rushworth, Rushworth, Rushworth, Speiser, Swerdlow   +25 more
core   +2 more sources

Congenital adrenal hyperplasia with associated giant adrenal myelolipoma, testicular adrenal rest tumors and primary pigmented nodular adrenocortical disease: A case report and brief review of the literature

Radiology Case Reports, 2022
Congenital adrenal hyperplasia is an autosomal recessive disease most commonly associated with 21-hydroxylase deficiency, an enzyme integral in the biosynthesis of mineralocorticoids and glucocorticoids.
Aaron Jacobson, DO, M. Eng., Elaine Koberlein, BS, Alan Thomay, MD, Cara B Lombard, MD, Ayodele Adelanwa, MD, Dhairya A Lakhani, MD, Kelly T. Smith, MD, MS   +6 more
doaj