Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]
Clinics, 2011 INTRODUCTION: 21-hydroxylase deficiency is an autosomal recessive disorder that causes glucocorticoid deficiency and increased androgen production.
Ricardo P. P. Moreira +6 more
doaj +7 more sources
Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency [PDF]
Case Reports in Medicine, 2009 We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was ...
Ingrid Nermoen +6 more
doaj +4 more sources
The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency [PDF]
Frontiers in Endocrinology, 2019 The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self ...
D. Pignatelli +5 more
semanticscholar +3 more sources
Novel deletion alleles carrying
BMC Medical Genetics, 2010 Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine ...
Guerra-Júnior Gil +10 more
doaj +4 more sources
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. [PDF]
Journal of Clinical Endocrinology and Metabolism, 2014 CONTEXT Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking. OBJECTIVE This study sought to study mortality and causes of death in CAH.
H. Falhammar +6 more
semanticscholar +3 more sources
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)
Clinical Pediatric Endocrinology, 2022 . Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic variants of ...
T. Ishii +14 more
semanticscholar +1 more source
The natural history of 21-hydroxylase autoantibodies in autoimmune Addison’s disease
European Journal of Endocrinology, 2021 Background The most common cause of primary adrenal failure (Addison’s disease) in the Western world is autoimmunity characterized by autoantibodies against the steroidogenic enzyme 21-hydroxylase (CYP21A2, 21OH).
A. Wolff +6 more
semanticscholar +1 more source
NON-CLASSIC 21 HYDROXYLASE DEFICIENCY CAUSED BY NEW COMPOUND HETEROZYGOUS MUTATIONS: A CASE REPORT AND LITERATURE REVIEW [PDF]
精准医学杂志, 2023 Objective To report the genetic information of a patient with non-classic 21 hydroxylase deficiency (21-OHD) for enriching the genetic database of this disease.
QI Mengmeng, WANG Xuemei, LIU Yunting, WANG Qian, XIN Qianyu, LIN Hua, LYU Wenshan, YANG Lili
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Beni-Suef University Journal of Basic and Applied Sciences, 2021 Background Measurement of multiple steroids, 17 hydroxyprogesterone, 11 deoxycortisol, and 21 deoxycortisol, is required to discriminate between congenital adrenal hyperplasia due to 21 hydroxylase deficiency and that due to 11 beta hydroxylase ...
Heba Asfour +6 more
doaj +1 more source
Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review
Sexes, 2023 Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21 ...
Giulia Bertolucci +7 more
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