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hyperplasia due to 21-hydroxylase deficiency . Annals of Pediatric Endocrinology and Metabolism 2016 21 1 – 6 . ( https://doi.org/10.6065/apem.2016.21.1.1 ) 10.6065/apem.2016.21.1.1 2 White PC Speiser PW . Congenital adrenal hyperplasia due to 21
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K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway
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K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway
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CYP21A2 encoding 21-hydroxylase, a key enzyme in the aldosterone and cortisol pathway ( 1 , 2 ). The classic form of 21-hydroxylase deficiency (21OHD) includes the salt-wasting (SW) form with complete lack of cortisol and aldosterone production, and
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activity. 21-hydroxylase deficiency is characterised by a wide spectrum of phenotypes determined by the residual 21-hydroxylase activity, ranging from the classic, severe form, to mild non-classic forms. Classic 21-hydroxylase deficiency occurs in 1
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
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Department of Clinical Medicine, University of Copenhagen, Denmark
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cytochromep450 family 21 subfamily A member 2 gene ( CYP21A2) , which leads to 21-hydroxylase deficiency (21-OHD) and may be life-threatening due to a reduced adrenal production of cortisol and aldosterone. The disturbance leads to an increased production of
Department of Analysis, Universidade Federal do Rio Grande do Sul (UFRGS), School of Pharmacy, Porto Alegre, RS, Brazil
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Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
Department of Pediatrics, Universidade Federal do Rio Grande do Sul (UFRGS), Medical School, Porto Alegre, RS, Brazil
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hyperplasia due to 21-hydroxylase deficiency . Endocrine Reviews 2000 21 245 – 291 . ( https://doi.org/10.1210/edrv.21.3.0398 ) Erratum in: Endocrine Reviews 2000 21 245 – 291 . ( https://doi.org/10.1210/edrv.21.5.0411 ) 4 de Carvalho DF Miranda MC
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Azziz R Baskin LS Ghizzoni L Hensle TW Merke DP Meyer-Bahlburg HF Miller WL Montori VM Oberfield SE . Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline
Department of Pediatrics, St. Anna Kinderspital, Medical University of Vienna, Vienna, Austria
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Introduction Congenital adrenal hyperplasia (CAH; incidence 1 in 10–15,000) due to 21-hydroxylase deficiency (21-OH) ( CYP21A2 ; OMIM 201910) is an autosomal recessive disorder resulting in a deficient production of the steroid hormones
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AmCare Genomics Lab, Guangzhou, People’s Republic of China
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PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency . Endocrine Reviews 2000 21 245 – 291 . ( https://doi.org/10.1210/edrv.21.3.0398 ) 10857554 5 Zuber MX Simpson ER Waterman MR. Expression of bovine 17 alpha
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Patients on prednis(ol)one at baseline of the phase 3 study were selected for the analysis ( 15 ). Patients had classic CAH due to 21-hydroxylase deficiency diagnosed in childhood, adequate mineralocorticoid replacement with renin less than two times the
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anomalies 4 (3.9) Undefined 11 (5.7) Table 2 Clinical profile of patients with CAH. Type of CAH Salt wasting Simple virilizing 21-hydroxylase deficiency CAH Numbers of patients 10 42