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Xin Feng and Gregory Kline

Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of the steroid synthesis pathways. The most common form of CAH is 21-hydroxylase deficiency, representing 90–95% of CAH patients and causes a spectrum of

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J Rajkanna and S O Oyibo

Background Congenital adrenal hyperplasia (CAH) is an inherited disorder resulting from the deficiency of enzymes required for synthesis of cortisol in the adrenal gland. The commonest enzyme defect is 21-hydroxylase deficiency and the

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Geetanjali Kale, Elaine M Pelley and Dawn Belt Davis

tumors, particularly myelolipomas, has been reported in patients with congenital adrenal hyperplasia (CAH). One study found a 4% incidence of myelolipoma in patients with CAH (4) . Rarely, very large bilateral myelolipomas have been reported in CAH

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T O’Shea, R K Crowley, M Farrell, S MacNally, P Govender, J Feeney, J Gibney and M Sherlock

Background Congenital adrenal hyperplasia (CAH) is the most common adrenal disorder diagnosed in children and is secondary to a defect in the 21-hydroxylase enzyme in more than 95% of cases. Virilisation of affected female children occurs in

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Jasmeet Kaur, Luis Casas and Himangshu S Bose

Background In addition to ambiguous genitalia development, the newest and the most recently characterized form of lipoid congenital adrenal hyperplasia (lipoid CAH) is the most severe form characterized by severe defects in the adrenal and the

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Himangshu S Bose, Alan M Rice, Brendan Marshall, Fadi Gebrail, David Kupshik and Elizabeth W Perry

ovary/gonads in a very complex pathway involving many genes. Any mutation in the genes involved in the pathway generally leads to diminished production of cortisol and adrenal enlargement and termed congenital adrenal hyperplasia (CAH). As a result, CAH

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M A Shehab, Tahseen Mahmood, M A Hasanat, Md Fariduddin, Nazmul Ahsan, Mohammad Shahnoor Hossain, Md Shahdat Hossain and Sharmin Jahan

Background The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of enzyme involved in the biosynthetic pathway of glucocorticoids, with or without involvement

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Lukas Burget, Laura Audí Parera, Monica Fernandez-Cancio, Rolf Gräni, Christoph Henzen and Christa E Flück

-angiotensin system. While in childhood genetic forms predominate, autoimmune PAI is the diagnosis most often found in adults. Overall, congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency ( CYP21A2 gene) is the most common form of genetic PAI ( 2

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Chrisanthi Marakaki, Anna Papadopoulou, Olga Karapanou, Dimitrios T Papadimitriou, Kleanthis Kleanthous and Anastasios Papadimitriou

Background Congenital adrenal hyperplasia (CAH) refers to a family of autosomal recessive inherited disorders characterized by defects in the enzymatic steps required for cortisol synthesis. Adrenocorticotropic hormone (ACTH) levels increase

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Jasmeet Kaur, Alan M Rice, Elizabeth O’Connor, Anil Piya, Bradley Buckler and Himangshu S Bose

enlargement, a condition known as congenital adrenal hyperplasia (CAH). A common feature in these mutations is the development of salt-losing crisis and ambiguous genitalia. Although it may be challenging to identify the gene responsible for reduced or low