Speiser PW, White PC (2003) Congenital adrenal hyperplasia. N Engl J Med 349:776–788. https://doi.org/10.1056/NEJMra021561

Article  CAS  PubMed  Google Scholar 

New MI (2001) Prenatal treatment of congenital adrenal hyperplasia: the United States experience. Endocrinol Metab Clin N Am 30:1–13

Article  CAS  Google Scholar 

Miller WL, Auchus RJ (2011) The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev 32:81–151. https://doi.org/10.1210/er.2010-0013

Article  PubMed  Google Scholar 

Kelestimur F (2006) Non-classic congenital adrenal hyperplasia. Pediatr Endocrinol Rev 3:451–454

PubMed  Google Scholar 

Polat S, Kulle A, Karaca Z, Akkurt I, Kurtoglu S, Kelestimur F, Grötzinger J, Holterhus PM, Riepe FG (2014) Characterisation of three novel CYP11B1 mutations in classic and non-classic 11beta-hydroxylase deficiency. Eur J Endocrinol 170:697–706. https://doi.org/10.1530/EJE-13-0737

Article  CAS  PubMed  Google Scholar 

Unluhizarci K, Kula M, Dundar M, Tanriverdi F, Israel S, Colak R, Dokmetas HS, Atmaca H, Bahceci M, Balci MK, Comlekci A, Bilen H, Akarsu E, Erem C, Kelestimur F (2010) The prevalence of non-classic adrenal hyperplasia among Turkish women with hyperandrogenism. Gynecol Endocrinol 26:139–143. https://doi.org/10.3109/09513590903215466

Article  CAS  PubMed  Google Scholar 

Keleştimur F, Sahin Y, Ayata D, Tutuş A (1996) The prevalence of non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency among hirsute women in a Turkish population. Clin Endocrinol (Oxf) 45:381–384. https://doi.org/10.1046/j.1365-2265.1996.8150825.x

Article  PubMed  Google Scholar 

Ferriman D, Gallwey JD (1961) Clinical assessment of body hair growth in women. J Clin Endocrinol Metab 21:1440–1447

Article  CAS  PubMed  Google Scholar 

Azziz R, Sanchez LA, Knochenhauer ES, Moran C, Lazenby J, Stephens KC, Taylor K, Boots LR (2004) Androgen excess in women: experience with over 1000 consecutive patients. J Clin Endocrinol Metab 89:453–462. https://doi.org/10.1210/jc.2003-031122

Article  CAS  PubMed  Google Scholar 

Unluhizarci K, Gokce C, Atmaca H, Bayram F, Kelestimur F (2004) A detailed investigation of hirsutism in a Turkish population: idiopathic hyperandrogenemia as a perplexing issue. Exp Clin Endocrinol Diabetes 112:504–509. https://doi.org/10.1055/s-2004-821307

Article  CAS  PubMed  Google Scholar 

Escobar-Morreale HF, Serrano-Gotarredona J, García-Robles R, Sancho J, Varela C (1997) Mild adrenal and ovarian steroidogenic abnormalities in hirsute women without hyperandrogenemia: does idiopathic hirsutism exist? Metabolism 46:902–907

Article  CAS  PubMed  Google Scholar 

Bonora E, Targher G, Alberiche M, Bonadonna RC, Saggiani F, Zenere MB, Monauni T, Muggeo M (2000) Homeostasis model assessment closely mirrors the glucose clamp technique in the assessment of insulin sensitivity: studies in subjects with various degrees of glucose tolerance and insulin sensitivity. Diabetes Care 23:57–63

Article  CAS  PubMed  Google Scholar 

Naiki Y, Kawamoto T, Mitsuuchi Y, Miyahara K, Toda K, Orii T, Imura H, Shizuta Y (1993) A nonsense mutation (TGG [Trp116]–>TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab 77:1677–1682. https://doi.org/10.1210/jcem.77.6.7903314

Article  CAS  PubMed  Google Scholar 

Wedell A, Thilén A, Ritzén EM, Stengler B, Luthman H (1994) Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 78:1145–1152. https://doi.org/10.1210/jcem.78.5.8175971

Article  CAS  PubMed  Google Scholar 

Chang YT, Kappy MS, Iwamoto K, Wang J, Yang X, Pang S (1993) Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. Pediatr Res 34:698–700. https://doi.org/10.1203/00006450-199311000-00026

Article  CAS  PubMed  Google Scholar 

Araújo RS, Mendonca BB, Barbosa AS, Lin CJ, Marcondes JA, Billerbeck AE, Bachega TA (2007) Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. J Clin Endocrinol Metab 92:4028–4034. https://doi.org/10.1210/jc.2006-2163

Article  CAS  PubMed  Google Scholar 

Knochenhauer ES, Key TJ, Kahsar-Miller M, Waggoner W, Boots LR, Azziz R (1998) Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern United States: a prospective study. J Clin Endocrinol Metab 83:3078–3082. https://doi.org/10.1210/jcem.83.9.5090

Article  CAS  PubMed  Google Scholar 

Carmina E, Koyama T, Chang L, Stanczyk FZ, Lobo RA (1992) Does ethnicity influence the prevalence of adrenal hyperandrogenism and insulin resistance in polycystic ovary syndrome? Am J Obstet Gynecol 167:1807–1812

Article  CAS  PubMed  Google Scholar 

Lobo RA (1991) Hirsutism in polycystic ovary syndrome: current concepts. Clin Obstet Gynecol 34:817–826

Article  CAS  PubMed  Google Scholar 

Aono T, Miyazaki M, Miyake A, Kinugasa T, Kurachi K, Matsumoto K (1977) Responses of serum gonadotrophins to LH-releasing hormone and oestrogens in Japanese women with polycystic ovaries. Acta Endocrinol (Copenh) 85:840–849

CAS  PubMed  Google Scholar 

Glintborg D, Hermann AP, Brusgaard K, Hangaard J, Hagen C, Andersen M (2005) Significantly higher adrenocorticotropin-stimulated cortisol and 17-hydroxyprogesterone levels in 337 consecutive, premenopausal, Caucasian, hirsute patients compared with healthy controls. J Clin Endocrinol Metab 90:1347–1353. https://doi.org/10.1210/jc.2004-1214

Article  CAS  PubMed  Google Scholar 

Tehrani FR, Rashidi H, Azizi F (2011) The prevalence of idiopathic hirsutism and polycystic ovary syndrome in the Tehran lipid and glucose study. Reprod Biol Endocrinol 9:144. https://doi.org/10.1186/1477-7827-9-144

Article  PubMed  PubMed Central  Google Scholar 

Mani RS, Chinnaiyan AM (2010) Triggers for genomic rearrangements: insights into genomic, cellular and environmental influences. Nat Rev Genet 11:819–829. https://doi.org/10.1038/nrg2883

Article  CAS  PubMed  Google Scholar 

Chen JM, Cooper DN, Chuzhanova N, Férec C, Patrinos GP (2007) Gene conversion: mechanisms, evolution and human disease. Nat Rev Genet 8:762–775. https://doi.org/10.1038/nrg2193

Article  CAS  PubMed  Google Scholar 

Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Campbell RD (1987) Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J 6:1653–1661

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brønstad I, Breivik L, Methlie P, Wolff AS, Bratland E, Nermoen I, Løvås K, Husebye ES (2014) Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia. Endocr Connect 3:67–74. https://doi.org/10.1530/EC-14-0032

Article  CAS  PubMed  PubMed Central  Google Scholar 

Barbaro M, Soardi FC, Östberg LJ, Persson B, de Mello MP, Wedell A, Lajic S (2015) In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 82:37–44. https://doi.org/10.1111/cen.12526

Article  CAS  PubMed  Google Scholar 

Koppens PF, Hoogenboezem T, Degenhart HJ (2002) Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes. Hum Genet 111:405–410. https://doi.org/10.1007/s00439-002-0810-7

Article  CAS  PubMed  Google Scholar 

Kharrat M, Riahi A, Maazoul F, M’Rad R, Chaabouni H (2011) Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods. Diagn Mol Pathol 20:123–127. https://doi.org/10.1097/PDM.0b013e3181f24807

Article  PubMed  Google Scholar 

Lekarev O, Tafuri K, Lane AH, Zhu G, Nakamoto JM, Buller-Burckle AM, Wilson TA, New MI (2013) Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene. J Perinatol 33:76–78. https://doi.org/10.1038/jp.2012.5

Article  CAS  PubMed  Google Scholar 

Zhang HJ, Yang J, Zhang MN, Zhang W, Liu JM, Wang WQ, Ning G, Li XY (2009) Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency. Clin Endocrinol (Oxf) 70:201–207. https://doi.org/10.1111/j.1365-2265.2008.03356.x

Article  CAS  PubMed  Google Scholar 

Baumgartner-Parzer SM, Nowotny P, Heinze G, Waldhäusl W, Vierhapper H (2005) Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population. J Clin Endocrinol Metab 90:775–778. https://doi.org/10.1210/jc.2004-1728

Article  CAS  PubMed  Google Scholar 

Fitness J, Dixit N, Webster D, Torresani T, Pergolizzi R, Speiser PW, Day DJ (1999) Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 84:960–966. https://doi.org/10.1210/jcem.84.3.5550

Article  CAS  PubMed  Google Scholar 

Admoni O, Israel S, Lavi I, Gur M, Tenenbaum-Rakover Y (2006) Hyperandrogenism in carriers of CYP21 mutations: the role of genotype. Clin Endocrinol (Oxf) 64:645–651. https://doi.org/10.1111/j.1365-2265.2006.02521.x

Article  CAS  PubMed