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Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu and Jun Jiang

Introduction Congenital adrenal hyperplasia (CAH) is one of the most severe disorders of metabolism with an overall incidence of approximately 1:15,000 worldwide ( 1 ). CAH encompasses a group of enzymatic deficiencies of cortisol synthesis

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Anne Bachelot, Magaly Vialon, Amandine Baptiste, Isabelle Tejedor, Caroline Elie, Michel Polak, Philippe Touraine and the CRMERC study group

’ ( 1 ). Congenital adrenal hyperplasia (CAH) is a lifelong condition. CAH is classified according to symptoms, age of presentation and genetics and is usually divided into two forms: the classic or severe form and the non-classic form ( 2 ). Pediatric

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Ingeborg Brønstad, Lars Breivik, Paal Methlie, Anette S B Wolff, Eirik Bratland, Ingrid Nermoen, Kristian Løvås and Eystein S Husebye

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

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Stefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Markus Bettendorf, Felix Riepe, Gernot Kriegshäuser, Eckhard Schönau, Gertrud Even, Berthold Hauffa, Helmuth-Günther Dörr, Reinhard W Holl, Klaus Mohnike and the AQUAPE CAH Study Group

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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R Walia, M Singla, K Vaiphei, S Kumar and A Bhansali

hormone (LH), follicle-stimulating hormone (FSH), testosterone (T) and dihydrotestosterone (DHT), androstenedione (A) and unstimulated and/or stimulated 17-hydroxy progesterone 17(OH) P levels (where indicated). Congenital adrenal hyperplasia was diagnosed

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Manon Engels, Paul N Span, Rod T Mitchell, Joop J T M Heuvel, Monica A Marijnissen-van Zanten, Antonius E van Herwaarden, Christina A Hulsbergen-van de Kaa, Egbert Oosterwijk, Nike M Stikkelbroeck, Lee B Smith, Fred C G J Sweep and Hedi L Claahsen-van der Grinten

Introduction Congenital adrenal hyperplasia (CAH) is a genetic disorder in which adrenocortical steroid synthesis is impaired due to a deficiency in particular steroidogenic enzymes, most often steroid 21-hydroxylase (CYP21A2). A wide range of

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Kathrin R Frey, Tina Kienitz, Julia Schulz, Manfred Ventz, Kathrin Zopf and Marcus Quinkler

Introduction In states of adrenal insufficiency (AI), such as primary adrenal insufficiency (PAI) and congenital adrenal hyperplasia (CAH), glucocorticoids (GCs) are given in low doses as hormone replacement therapy. However, the daily intake

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Sandra R Dahl, Ingrid Nermoen, Ingeborg Brønstad, Eystein S Husebye, Kristian Løvås and Per M Thorsby

Introduction Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders with impaired biosynthesis of adrenal glucocorticosteroids and defects in cortisol biosynthesis. More than 95% of cases are caused by mutations in

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Henrik Falhammar, Hedi Claahsen-van der Grinten, Nicole Reisch, Jolanta Slowikowska-Hilczer, Anna Nordenström, Robert Roehle, Claire Bouvattier, Baudewijntje P C Kreukels, Birgit Köhler and on behalf of the dsd-LIFE group

; and XX-DSD characterized by androgen excess such as congenital adrenal hyperplasia (CAH) ( 1 ). Due to the wide range of pathophysiology and presentation, patients with DSD may need a large variety of treatments such as genital surgery, sex hormone

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Mirjana Kocova, Vesna Janevska and Violeta Anastasovska

Introduction Congenital adrenal hyperplasia (CAH) is most frequently caused by deficiency of 21-hydroxylase, a key enzyme in the mineralocorticoid and glucocorticoid synthesis pathways in humans. It is a rare autosomal recessive disease with a