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7Auchus RJ, Arlt W: Approach to the patient: the adult with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2013;98:2645–2655.

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9Bachelot A, Chakthoura Z, Rouxel A, Dulon J, Touraine P: Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults. Horm Res 2008;69:203–211.

10Auchus RJ: Management considerations for the adult with congenital adrenal hyperplasia. Mol Cell Endocrinol 2015;408:190–197.

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14Charmandari E, Johnston A, Brook CG, Hindmarsh PC: Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Endocrinol 2001;169:65–70.

15Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JM, Ross RJ; the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE): Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab 2010;95:5110–5121.

16Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, Hill SC, Reynolds JC, Hanna RM, Merke DP: Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2012;97:4429–4438.

17Bachelot A, Golmard JL, Dulon J, Dahmoune N, Leban M, Bouvattier C, Cabrol S, Leger J, Polak M, Touraine P: Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia. Eur J Endocrinol 2015;173:175–184.

18Ogilvie CM, Crouch NS, Rumsby G, Creighton SM, Liao LM, Conway GS: Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clin Endocrinol (Oxf) 2006;64: 2–11.

19Reisch N: Substitution therapy in adult patients with congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab 2015;29:33–45.

20Falhammar H, Frisén L, Norrby C, Hirschberg AL, Almqvist C, Nordenskjöld A, Nordenström A: Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2014;99:2715–2721.

21Falhammar H, Frisén L, Hirschberg AL, Norrby C, Almqvist C, Nordenskjöld A, Nordenström A: Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency: a Swedish population-based national cohort study. J Clin Endocrinol Metab 2015;100:3520–3528.

22Gleeson H, Davis J, Jones J, O’Shea E, Clayton PE: The challenge of delivering endocrine care and successful transition to adult services in adolescents with congenital adrenal hyperplasia: experience in a single centre over 18 years. Clin Endocrinol (Oxf) 2013;78:23–28.

23Gastaud F, Bouvattier C, Duranteau L, Brauner R, Thibaud E, Kutten F, Bougnères P: Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab 2007;92:1391–1396.

24Bachelot A, Chakhtoura Z, Plu-Bureau G, Coudert M, Coussieu C, Badachi Y, Dulon J, Charbit B, Touraine P; CAHLH study group: Influence of hormonal control on LH pulsatility and secretion in women with classical congenital adrenal hyperplasia. Eur J Endocrinol 2012;167:499–505.

25Merke D, Poppas DP: Management of adolescents with congenital adrenal hyperplasia. Lancet Diabetes Endocrinol 2013;1:341–352.

26Wang LC, Poppas DP: Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: what every endocrinologist should know. J Steroid Biochem Mol Biol 2017;165:137–144.

27Reifsnyder JE, Stites J, Bernabé KJ, Galan D, Felsen D, Poppas DP: Nerve sparing clitoroplasty is an option for adolescent and adult female patients with congenital adrenal hyperplasia and clitoral pain following prior clitoral recession or incomplete reduction. J Urol 2016;195:1270–1273.

28Lesma A, Bocciardi A, Montorsi F, Rigatti P: Passerini-Glazel feminizing genitoplasty: modifications in 17 years of experience with 82 cases. Eur Urol 2007;52:1638–1644.

29Mouriquand PD, Gorduza DB, Gay C–L, Meyer-Bahlburg HFL, Baker L, Baskin LS, Bouvattier C, Braga LH, Caldamone AC, Duranteau L, El Ghoneimi A, Hensle TW, Hoebeke P, Kaefer M, Kalfa N, Kolon TF, Manzoni G, Mure P, Nordenskjöld A, Pippi Salle JL, Poppas DP, Ransley PG, Rink RC, Rodrigo R, Sann L, Schober J, Sibai H, Wisniewski A, Wolffenbuttel KP, Lee P: Surgery in disorders of sex development (DSD) with a gender issue: if (why), when, and how? J Pediatr Urol 2016;12:139–149.

30Hagenfeldt K, Janson PO, Holmdahl G, Falhammar H, Filipsson H, Frisén L, Thorén M, Nordenskjöld A: Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod 2008;23:1607–1613.

31Casteràs A, De Silva P, Rumsby G, Conway GS: Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate. Clin Endocrinol (Oxf) 2009;70:833–837.

32Strandqvist A, Falhammar H, Lichtenstein P, Hirschberg AL, Wedell A, Norrby C, Nordenskjöld A, Frisén L, Nordenström A: Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden. J Clin Endocrinol Metab 2014;99:1425–1432.

33Reisch N, Scherr M, Flade L, Bidlingmaier M, Schwarz H-P, Müller-Lisse U, Reincke M, Quinkler M, Beuschlein F: Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency. J Clin Endocrinol Metab 2010;95:2065–2072.

34Bouvattier C, Esterle L, Renoult-Pierre P, de la Perrière AB, Illouz F, Kerlan V, Pascal-Vigneron V, Drui D, Christin-Maitre S, Galland F, Brue T, Reznik Y, Schillo F, Pinsard D, Piguel X, Chabrier G, Decoudier B, Emy P, Tauveron I, Raffin-Sanson ML, Bertherat J, Kuhn JM, Caron P, Cartigny M, Chabre O, Dewailly D, Morel Y, Touraine P, Tardy-Guidollet V, Young J: Clinical outcome, hormonal status, gonadotrope axis, and testicular function in 219 adult men born with classic 21-hydroxylase deficiency. a French national survey. J Clin Endocrinol Metab 2015;100:2303–2313.

35Claahsen-van der Grinten HL, Dehzad F, Kamphuis-van Ulzen K, de Korte CL: Increased prevalence of testicular adrenal rest tumours during adolescence in congenital adrenal hyperplasia. Horm Res 2014;82:238–244.

36Aycan Z, Bas VN, Cetinkaya S, Yilmaz Agladioglu S, Tiryaki T: Prevalence and long-term follow-up outcomes of testicular adrenal rest tumours in children and adolescent males with congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 2013;78:667–672.

37Chihaoui M, Kanoun F, Chaker F, Yazidi M, Bouchrit K, Mizouni H, Feki M, Kharrat M, Slimane H: Testicular adrenal rest tumours in young adult males with congenital adrenal hyperplasia: prevalence and impact on testicular function. Andrologia 2016;48:45–50.

38Reisch N, Rottenkolber M, Greifenstein A, Krone N, Schmidt H, Reincke M, Schwarz HP, Beuschlein F: Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. J Clin Endocrinol Metab 2013;98:E1820–E1826.

39Smeets EEJW, Span PN, van Herwaarden AE, Wevers RA, Hermus ARMM, Sweep FC, Claahsen-van der Grinten HL: Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features. J Clin Endocrinol Metab 2015;100:E524–E530.

40Reisch N, Flade L, Scherr M, Rottenkolber M, Pedrosa Gil F, Bidlingmaier M, Wolff H, Schwarz HP, Quinkler M, Beuschlein F, Reincke M. High prevalence of reduced fecundity in men with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2009;94:1665–1670.

41Falhammar H, Nyström HF, Ekström U, Granberg S, Wedell A, Thorén M: Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia. Eur J Endocrinol 2012;166:441–449.

42Falhammar H, Nyström HF, Thorén M: Quality of life, social situation, and sexual satisfaction, in adult males with congenital adrenal hyperplasia. Endocrine 2014;47:299–307.

43Dudzińska B, Leubner J, Ventz M, Quinkler M: Sexual well-being in adult male patients with congenital adrenal hyperplasia. Int J Endocrinol 2014;2014:469289.

44Strandqvist A, Falhammar H, Lichtenstein P, Hirschberg AL, Wedell A, Norrby C, Nordenskjöld A, Frisén L, Nordenström A: Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden. J Clin Endocrinol Metab 2014;99:1425–1432.

45King TFJ, Lee MC, Williamson EEJ, Conway GS: Experience in optimizing fertility outcomes in men with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. Clin Endocrinol (Oxf) 2016;84:830–836.

46Mooij CF, Kroese JM, Claahsen-van der Grinten HL, Tack CJ, Hermus AR: Unfavourable trends in cardiovascular and metabolic risk in paediatric and adult patients with congenital adrenal hyperplasia? Clin Endocrinol 2010;73:137–146.

47Marra AM, Improda N, Capalbo D, Salzano A, Arcopinto M, De Paulis A, Alessio M, Lenzi A, Isidori AM, Cittadini A, Salerno M: Cardiovascular abnormalities and impaired exercise performance in adolescents with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2015;100:644–652.

48Nermoen I, Brønstad I, Fougner KJ, Svartberg J, Øksnes M, Husebye ES, Løvås K: Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency. Eur J Endocrinol 2012;167:507–516.

49Ceccato F, Barbot M, Albiger N, Zilio M, De Toni P, Luisetto G, Zaninotto M, Greggio NA, Boscaro M, Scaroni C, Camozzi V: Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol 2016;175:101–106.

50Bachelot A, Chakhtoura Z, Samara-Boustani D, Dulon J, Touraine P, Polak M: Bone health should be an important concern in the care of patients affected by 21 hydroxylase deficiency. Int J Pediatr Endocrinol 2010;2010:326275.

51Chakhtoura Z, Bachelot A, Samara-Boustani D, Ruiz JC, Donadille B, Dulon J, Christin-Maître S, Bouvattier C, Raux-Demay MC, Bouchard P, Carel JC, Leger J, Kuttenn F, Polak M, Touraine P; Centre des Maladies Endocriniennes Rares de la Croissance and Association Surrénales: Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency. Eur J Endocrinol 2008;158:879–887.

52Han TS, Krone N, Willis DS, Conway GS, Hahner S, Rees DA, Stimson RH, Walker BR, Arlt W, Ross RJ; United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE): Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE). Eur J Endocrinol 2013;168:887–893.

53Jääskeläinen N, Voutilainen R: Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life. Acta Paediatr 2000;89:183–187.

54Reisch N, Hahner S, Bleicken B, Flade L, Pedrosa Gil F, Loeffler M, Ventz M, Hinz A, Beuschlein F, Allolio B, Reincke M, Quinkler M: Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency. Clin Endocrinol (Oxf) 2011;74:166–173.

55Bachelot A, Vialon M, Baptiste A, Tejedor I, Elie C, Polak M, Touraine P: Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood. Endocr Connect 2017; 6:422–429.

56Blum RW, Garell D, Hodgman CH, Jorissen TW, Okinow NA, Orr DP, Slap GB: Transition from child-centered to adult health-care systems for adolescents with chronic conditions. A position paper of the Society for Adolescent Medicine. J Adolesc Health 1993;14:570–576.

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58Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC; Endocrine Society: Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010;95:4133–4160.

59Malivoir S, Courtillot C, Bachelot A, Chakhtoura Z, Téjédor I, Touraine P: Therapeutic education programme for patients with chronic endocrine conditions: Transition from paediatric to adult services. Presse Méd 2016;45:e119–e129.

60Godbout A, Tejedor I, Malivoir S, Polak M, Touraine P: Transition from pediatric to adult healthcare: assessment of specific needs of patients with chronic endocrine conditions. Horm Res Paediatr 2012;78:247–255.

61Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Golmard JL, Tardy V, Morel Y, Clauin S, Coussieu C, Boudou P, Mowzowicz I, Bachelot A, Touraine P, Kuttenn F: Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2010;95:1182–1190.

62Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL, Claustre A, Mornet E, Chakhtoura Z, Mowszowicz I, Bachelot A, Touraine P, Kuttenn F: Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. J Clin Endocrinol Metab 2009;94:1570–1578.

Anne Bachelot

Centre de Référence des Pathologies Gynécologiques Rares, ICAN

Centre de Référence des Maladies Endocriniennes Rares de la Croissance

Department of Endocrinology and Reproductive Medicine, AP-HP, IE3M

Hôpital Pitié-Salpêtrière

47–83, boulevard de l’Hôpital, FR–75013 Paris (France)

E-Mail anne.bachelot@aphp.fr