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2.      Auchus RJ. The classic and nonclassic concenital adrenal hyperplasias. Endocr Pract. 2015;21(4):383-9.

3.      Bachega TA, Billerbeck AE, Marcondes JA, Madureira G, Arnhold IJ, Mendonca BB. Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol (Oxf). 2000;52(5):601-7.

4.      Bonfig W, Pozza SB, Schmidt H, Pagel P, Knorr D, Schwarz HP. Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation. J Clin Endocrinol Metab. 2009;94(10):3882-8.

5.      Bongiovanni AM. The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase. J Clin Invest. 1962;41(11):2086-92.

6.      Bose HS, Sugawara T, Strauss JF 3rd, Miller WL; International Congenital Lipoid Adrenal Hyperplasia Consortium. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med. 1996;335(25):1870-8.

7.      Cara JF, Moshang T Jr, Bongiovanni AM, Marx BS. Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency. N Engl J Med. 1985;313(10):618-21.

8.      Chung BC, Matteson KJ, Voutilainen R, Mohandas TK, Miller WL. Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta. Proc Natl Acad Sci U S A. 1986;83(23):8962-6.

9.      Chung BC, Picado-Leonard J, Haniu M, Bienkowski M, Hall PF, Shively JE, Miller WL. Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc Natl Acad Sci U S A. 1987;84(2):407-11.

10.  D’Armiento M, Reda G, Kater C, Shackleton CH, Biglieri EG. 17 alpha-hydroxylase deficiency: mineralocorticoid hormone profiles in an affected family. J Clin Endocrinol Metab. 1983;56(4):697-701.

11.  El-Maouche D, Hargreaves CJ, Sinaii N, Mallappa A, Veeraraghavan P, Merke DP. Longitudinal assessment of illnesses, stress dosing, and illness sequelae in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2018;103(6):2336-45.

12.  Flück CE, Pandey AV, Huang N, Agrawal V, Miller WL. P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. Endocr Dev. 2008;13:67-81.

13.  Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004;36(3):228-30.

14.  Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update. 2004;10(6):469-85.

15.  Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T. Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatr Res. 2006;59(2):276-80.

16.  Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab. 2005;90(1):414-26.

17.  Gassner HL, Toppari J, Quinteiro González S, Miller WL. Near-miss apparent SIDS from adrenal crisis. J Pediatr. 2004;145(2):178-83.

18.  Goto M, Piper Hanley K, Marcos J, Wood PJ, Wright S, Postle AD, Cameron IT, Mason JI, Wilson DI, Hanley NA. In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. J Clin Invest. 2006;116(4):953-60.

19.  Güran T, Tezel B, Gürbüz F, Selver Eklioğlu B, Hatipoğlu N, Kara C, Şimşek E, Çizmecioğlu FM, Ozon A, Baş F, Aydın M, Darendeliler F. Neonatal screening for congenital adrenal hyperplasia in Turkey: a pilot study with 38,935 infants. J Clin Res Pediatr Endocrinol. 2019;11(1):13-23.

20.  Gwynne JT, Strauss JF 3rd. The role of lipoproteins in steroidogenesis and cholesterol metabolism in steroidogenic glands. Endocr Rev. 1982;3(3):299-329.

21.  Huang N, Miller WL. Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc. J Biol Chem. 2000;275(4):2852-8.

22.  Kovanen PT, Faust JR, Brown MS, Goldstein JL. Low density lipoprotein receptors in bovine adrenal cortex. I. Receptor-mediated uptake of low density lipoprotein and utilization of its cholesterol for steroid synthesis in cultured adrenocortical cells. Endocrinology. 1979;104(3):599-609.

23.  Krone N, Grötzinger J, Holterhus PM, Sippell WG, Schwarz HP, Riepe FG. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency—insights from two novel CYP11B1 mutations (p.M92X, p.R453Q). Horm Res. 2009;72(5):281-6.

24.  Lin D, Sugawara T, Strauss JF 3rd, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science. 1995;267(5205):1828-31.

25.  Lucky AW, Rosenfield RL, McGuire J, Rudy S, Helke J. Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche. J Clin Endocrinol Metab. 1986;62(5):840-8.

26.  Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, Castro-Magana M, Copeland KC, David R, Pang S. Newly proposed hormonal criteria via genotypic proof for type II 3β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 2002;87(6):2611-22.

27.  Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. J Clin Endocrinol Metab. 2003;88(12):5739-46.

28.  Mason JI, Rainey WE. Steroidogenesis in the human fetal adrenal: a role for cholesterol synthesized de novo. J Clin Endocrinol Metab. 1987;64(1):140-7.

29.  Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005;365(9477):2125-36.

30.  Mermejo LM, Elias LL, Marui S, Moreira AC, Mendonca BB, de Castro M. Refining hormonal diagnosis of type II 3β-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. J Clin Endocrinol Metab. 2005;90(3):1287-93.

31.  Miller KK, Cai J, Ripp SL, Pierce WM Jr, Rushmore TH, Prough RA. Stereo- and regioselectivity account for the diversity of dehydroepiandrosterone (DHEA) metabolites produced by liver microsomal cytochromes P450. Drug Metab Dispos. 2004;32(3):305-13.

32.  Miller WL. Minireview: regulation of steroidogenesis by electron transfer. Endocrinology. 2005;146(6):2544-50.

33.  Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011;32(1):81-151.

34.  Moran C, Azziz R, Carmina E, Dewailly D, Fruzzetti F, Ibañez L, Knochenhauer ES, Marcondes JA, Mendonca BB, Pignatelli D, Pugeat M, Rohmer V, Speiser PW, Witchel SF. 21-Hydroxylase-deficient nonclassic adrenal hyperplasia is a progressive disorder: a multicenter study. Am J Obstet Gynecol. 2000;183(6):1468-74.

35.  Nebert DW, Wikvall K, Miller WL. Human cytochromes P450 in health and disease. Philos Trans R Soc Lond B Biol Sci. 2013;368(1612):20120431.

36.  Orentreich N, Brind JL, Rizer RL, Vogelman JH. Age changes and sex differences in serum dehydroepiandrosterone sulfate concentrations throughout adulthood. J Clin Endocrinol Metab. 1984;59(3):551-5.

37.  Pang SY, Lerner AJ, Stoner E, Levine LS, Oberfield SE, Engel I, New MI. Late-onset adrenal steroid 3β-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women. J Clin Endocrinol Metab. 1985;60(3):428-39.

38.  Parsa AA, New MI. Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. J Steroid Biochem Mol Biol. 2017;165(Pt A):2-11.

39.  Perry R, Kecha O, Paquette J, Huot C, Van Vliet G, Deal C. Primary adrenal insufficiency in children: twenty years’ experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab. 2005;90(6):3243-50.

40.  Scaroni C, Opocher G, Mantero F. Renin-angiotensin-aldosterone system: a long-term follow-up study in 17 alpha-hydroxylase deficiency syndrome (17OHDS). Clin Exp Hypertens A. 1986;8(4-5):773-80.

41.  Sherbet DP, Tiosano D, Kwist KM, Hochberg Z, Auchus RJ. CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. J Biol Chem. 2003;278(49):48563-9.

42.  Simard J, Ricketts ML, Gingras S, Soucy P, Feltus FA, Melner MH. Molecular biology of the 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase gene family. Endocr Rev. 2005;26(4):525-82.

43.  Solem RC, Martz M, Weiss E, Reese P, Kawamoto H, Lee JC. Multidisciplinary treatment of Antley-Bixler syndrome. Cleft Palate Craniofac J. 2017;54(1):100-8.

44.  Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018;103(11):4043-88.

45.  Sugawara T, Holt JA, Kiriakidou M, Strauss JF 3rd. Steroidogenic factor 1-dependent promoter activity of the human steroidogenic acute regulatory protein (StAR) gene. Biochemistry. 1996;35(28):9052-9.

46.  Tiosano D, Knopf C, Koren I, Levanon N, Hartmann MF, Hochberg Z, Wudy SA. Metabolic evidence for impaired 17α-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity. Eur J Endocrinol. 2008;158(3):385-92.

47.  Valadares LP, Pfeilsticker ACV, de Brito Sousa SM, Cardoso SC, de Moraes OL, Gonçalves de Castro LC, de Oliveira RS, Lofrano-Porto A. Insights on the phenotypic heterogeneity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families. Endocrine. 2018;62(2):326-32.

48.  Voutilainen R, Tapanainen J, Chung BC, Matteson KJ, Miller WL. Hormonal regulation of P450scc (20,22-desmolase) and P450c17 (17 alpha-hydroxylase/17,20-lyase) in cultured human granulosa cells. J Clin Endocrinol Metab. 1986;63(1):202-7.

49.  White PC, Pascoe L. Disorders of steroid 11 beta-hydroxylase isozymes. Trends Endocrinol Metab. 1992;3(6):229-34.

50.  Zachmann M, Tassinari D, Prader A. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab. 1983;56(2):222-9.

51.  Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J Steroid Biochem Mol Biol. 2017;165(Pt A):71-8.