Transition of Care. Группа авторов

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СКАЧАТЬ MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T: Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci USA 2013;12:2611–2616.

4White PC, Speiser PW: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245–291.

5New MI: Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006;91:4205–4214.

6Bachelot A, Grouthier V, Courtillot C, Dulon J, Touraine P: Management of endocrine disease: congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment. Eur J Endocrinol 2017;176:R167–R181.

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

8Finkielstain 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.

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.

11Charmandari E, Brook CG, Hindmarsh PC: Classic congenital adrenal hyperplasia and puberty. Eur J Endocrinol 2004;151:U77–U82.

12Ross RJ, Rostami-Hodjegan A: Timing and type of glucocorticoid replacement in adult congenital adrenal hyperplasia. Horm Res 2005;64(suppl 2):67–70.

13Bonfig W, Bechtold S, Schmidt H, Knorr D, Schwarz HP: Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty. J Clin Endocrinol Metab 2007;92:1635–1639.

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 СКАЧАТЬ