Клинические рекомендации Российской ассоциации эндокринологов по диагностике и лечебно-профилактическим мероприятиям при врожденной дисфункции коры надпочечников у пациентов во взрослом возрасте

Мельниченко Г.А., Трошина Е.А., Молашенко Н.В. и др. Клинические рекомендации Российской ассоциации эндокринологов по диагностике и лечебно-профилактическим мероприятиям при врожденной дисфункции коры надпочечников у пациентов во взрослом возрасте. Consilium Medicum. 2016; 18 (4): 8–19. DOI: 10.26442/2075-1753_2016.4.8-19

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Melnichenko G.A., Troshina E.A., Molashenko N.V. et al. Russian Association of Endocrinologists clinical practice guidelines for diagnosis, treatment and preventive measures in congenital adrenal hyperplasia due to 21-hydroxylase deficiency patients in adulthood. Consilium Medicum. 2016; 18 (4): 8–19. DOI: 10.26442/2075-1753_2016.4.8-19

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Аннотация

В клинических рекомендациях представлены основные подходы к диагностике, лечению и динамическому наблюдению пациентов с классическими и неклассической формами дефицита 21-гидроксилазы. Рассмотрены методики проведения диагностических проб и параметры гормональных показателей для оценки адекватности заместительной терапии глюко- и минералокортикоидами.

Ключевые слова: врожденная дисфункция коры надпочечников, неклассическая врожденная дисфункция коры надпочечников, 17-ОН-прогестерон, Синактен.

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Russian clinical practice guidelines presents the main approaches to the diagnosis, treatment and follow-up of patients with classical and nonclassical forms 21-hydroxylase deficiency. The techniques of diagnostic tests and parameters of hormonal indicators to assess the adequacy of replacement thera- py glucocorticoids and mineralocorticoids are considered.

Key words: congenital adrenal hyperplasia, nonclassical congenital adrenal hyperplasia, 17-OH-progesterone, Sinakten.

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Список литературы

1. Федеральные клинические рекомендации – протоколы по ведению пациентов с врожденной дисфункцией коры надпочечников в детском возрасте. Пробл. эндокринологии. 2014; 2: 42–50. / Federal'nye klinicheskie rekomendatsii – protokoly po vedeniiu patsientov s vrozhdennoi disfunktsiei kory nadpochechnikov v detskom vozraste. Probl. endokrinologii. 2014; 2: 42–50. [in Russian]
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3. Speiser PW, Dupont B, Rubinstein P et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37: 650–67.
4. Сазонова А.И. Соматический статус и метаболические нарушения у взрослых пациентов с различными формами врожденной дисфункции коры надпочечников. Дис. … канд. мед. наук. М., 2013. / Sazonova A.I. Somaticheskii status i metabolicheskie narusheniia u vzroslykh patsientov s razlichnymi formami vrozhdennoi disfunktsii kory nadpochechnikov. Dis. … kand. med. nauk. M., 2013. [in Russian]
5. Azziz R, Hincapie LA, Knochenhauer ES et al. Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study. Fertil Steril 1999; 72: 915–25.
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7. Török D, Halasz Z, Garami M et al. Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency. Exp Clin Endocrinol Diabetes 2003; 111: 27–32.
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9. Moran C, Azziz R, Weintrob N et al. Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. J Clin Endocrinol Metab 2006; 91: 3451–6.
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11. Riepe FG, Krone N, Viemann M et al. Management of congenital adrenal hyperplasia: results of the ESPE questionnaire. Horm Res 2002; 58: 196–205.
12. Brunton LL. Goodman & Gilman’s the pharmacological basis of therapeutics. McGraw Hill, 2006.
13. Charmandari E, Matthews DR, Johnston A et al. Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory? J Clin Endocrinol Metab 2001; 86: 4679–85.
14. Rosenfield RL. Serum cortisol and 17-hydroxyprogesterone concentrations in children with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 2002; 87: 2993.
15. Spritzer P, Billaud L, Thalabard JC et al. Cyproterone acetate versus hydrocortisone treatment in late-onset adrenal hyperplasia. J Clin Endocrinol Metab 1990; 70: 642–6.
16. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005; 365: 2125–36.
17. Stikkelbroeck NM, Oyen WJ, van der Wilt GJ et al. Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2003; 88: 1036–42.
18. Falhammar H, Filipsson H, Holmdahl G et al. Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2007; 92: 110–6.
19. Zimmermann A, Grigorescu-Sido P, AlKhzouz C et al. Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res Paediatr 2010; 74 (1): 41–9.
20. Bachelot A, Chakhtoura Z, Samara-Boustani D et al. Bone health should be an important concern in the care of patients affected by 21 hydroxylase deficiency. Int J Pediatr Endocrinol 2010.
21. Barzon L, Sonino N, Fallo F et al. Prevalence and natural history of adrenal incidentalomas. Eur J Endocrinol 2003; 149: 273–85.
22. Varan A, Unal S, Ruacan S, Vidinlisan S. Adrenocortical carcinoma associated with adrenogenital syndrome in a child. Med Pediatr Oncol 2000; 35: 88–90.
23. Hague WM, Adams J, Rodda C et al. The prevalence of polycystic ovaries in patients with congenital adrenal hyperplasia and their close relatives. Clin Endocrinol (Oxf) 1990; 33: 501–10.
24. Bryan SM, Honour JW, Hindmarsh PC. Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion. J Clin Endocrinol Metab 2009.
25. Merza Z, Rostami-Hodjegan A, Memmott A, Doane A. Circadian hydrocortisone infusions in patients with adrenal insufficiency and congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 2006; 65: 45–50.
26. Verma S, Sinaii N, Kim MS et al. A pharmacokinetic and pharmacodynamic study of delayed- and extended release hydrocortisone (ChronocortTM) versus conventional hydrocortisone (CortefTM) in the treatment of congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 2010; 72: 441–7.
27. Cabrera MS, Vogiatzi MG, New MI. Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001; 86: 3070–8.
28. Claahsen-van der Grinten HL, Otten BJ, Hermus AR et al. Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage. Fertil Steril 2008; 89: 597–601.
29. Charmandari E, Brook CG, Hindmarsh PC. Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty? Arch Dis Child 2002; 86: 266–9.
30. Hagenfeldt K, Janson PO, Holmdahl G et al. Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod 2008; 23: 1607–13.
31. Файзулин А.К., Батыгин М.П., Глыбина Т.М., Шкитырь З.В. Современные методы хирургической коррекции пороков наружных гениталий у девочек с врожденной дисфункцией коры надпочечников. Андрология и генитальная хирургия. 2011; 3: 69–73. / Faizulin A.K., Batygin M.P., Glybina T.M., Shkityr' Z.V. Sovremennye metody khirurgicheskoi korrektsii porokov naruzhnykh genitalii u devochek s vrozhdennoi disfunktsiei kory nadpochechnikov. Andrologiia i genital'naia khirurgiia. 2011; 3: 69–73. [in Russian]
32. Casteras 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: 833–7.
33. Lo JC, Schwitzgebel VM, Tyrrell JB et al. Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1999; 84: 930–6.
34. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child 2006; 91: 554–63.
35. Dessens AB, Slijper FM, Drop SL. Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 2005; 34: 389–97.
36. Meyer-Bahlburg HF, Dolezal C, Baker SW, New MI. Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 2008; 37: 85–99.
37. Зубкова Н.А., Дворянчиков Н.В., Окулов А.Б., Касаткина Э.П. Психосексуальный статус больных с врожденной дисфункцией коры надпочечников. Успехи теоретической и клинической медицины: материалы научных исследований РМАПО. М., 2003; с. 228–9. / Zubkova N.A., Dvorianchikov N.V., Okulov A.B., Kasatkina E.P. Psikhoseksual'nyi status bol'nykh s vrozhdennoi disfunktsiei kory nadpochechnikov. Uspekhi teoreticheskoi i klinicheskoi meditsiny: materialy nauchnykh issledovanii RMAPO. M., 2003; s. 228–9. [in Russian]
38. Meyer-Bahlburg HF. Health-related quality of life in intersexuality. Acta Paediatr Suppl 1999; 88: 114–5.
39. Martin KA, Chang RJ, Ehrmann DA et al. Evaluation and Treatment Of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2008; 93 (Issue 4): 1105–20.
40. Андреева Е.Н., Ужегова Ж.А. Врожденная дисфункция коры надпочечников (адреногенитальный синдром): скрининг, диагностика, лечение. Методические рекомендации. М., 2010. / Andreeva E.N., Uzhegova Zh.A. Vrozhdennaia disfunktsiia kory nadpochechnikov (adrenogenital'nyi sindrom): skrining, diagnostika, lechenie. Metodicheskie rekomendatsii. M., 2010. [in Russian]
41. Дедов И.И., Краснопольский В.И., Сухих Г.Т. Российский национальный консенсус «Гестационный сахарный диабет: диагностика, лечение, послеродовое наблюдение». Сахарный диабет. 2012; 4: 4–10. / Dedov I.I., Krasnopol'skii V.I., Sukhikh G.T. Rossiiskii natsional'nyi konsensus «Gestatsionnyi sakharnyi diabet: diagnostika, lechenie, poslerodovoe nabliudenie». Sakharnyi diabet. 2012; 4: 4–10. [in Russian]

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1. Federal'nye klinicheskie rekomendatsii – protokoly po vedeniiu patsientov s vrozhdennoi disfunktsiei kory nadpochechnikov v detskom vozraste. Probl. endokrinologii. 2014; 2: 42–50. [in Russian]
2. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010; 95 (9): 4133–60.
3. Speiser PW, Dupont B, Rubinstein P et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37: 650–67.
4. Sazonova A.I. Somaticheskii status i metabolicheskie narusheniia u vzroslykh patsientov s razlichnymi formami vrozhdennoi disfunktsii kory nadpochechnikov. Dis. … kand. med. nauk. M., 2013. [in Russian]
5. Azziz R, Hincapie LA, Knochenhauer ES et al. Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study. Fertil Steril 1999; 72: 915–25.
6. Bidet M, Bellanné-Chantelot C, Galand-Portier MB et al. 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: 1570–8.
7. Török D, Halasz Z, Garami M et al. Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency. Exp Clin Endocrinol Diabetes 2003; 111: 27–32.
8. Bidet M, Bellanné-Chantelot C, Galand-Portier MB et al. Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2010; 95: 1182–90.
9. Moran C, Azziz R, Weintrob N et al. Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. J Clin Endocrinol Metab 2006; 91: 3451–6.
10. New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006; 91: 4205–14.
11. Riepe FG, Krone N, Viemann M et al. Management of congenital adrenal hyperplasia: results of the ESPE questionnaire. Horm Res 2002; 58: 196–205.
12. Brunton LL. Goodman & Gilman’s the pharmacological basis of therapeutics. McGraw Hill, 2006.
13. Charmandari E, Matthews DR, Johnston A et al. Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory? J Clin Endocrinol Metab 2001; 86: 4679–85.
14. Rosenfield RL. Serum cortisol and 17-hydroxyprogesterone concentrations in children with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 2002; 87: 2993.
15. Spritzer P, Billaud L, Thalabard JC et al. Cyproterone acetate versus hydrocortisone treatment in late-onset adrenal hyperplasia. J Clin Endocrinol Metab 1990; 70: 642–6.
16. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005; 365: 2125–36.
17. Stikkelbroeck NM, Oyen WJ, van der Wilt GJ et al. Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2003; 88: 1036–42.
18. Falhammar H, Filipsson H, Holmdahl G et al. Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2007; 92: 110–6.
19. Zimmermann A, Grigorescu-Sido P, AlKhzouz C et al. Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res Paediatr 2010; 74 (1): 41–9.
20. Bachelot A, Chakhtoura Z, Samara-Boustani D et al. Bone health should be an important concern in the care of patients affected by 21 hydroxylase deficiency. Int J Pediatr Endocrinol 2010.
21. Barzon L, Sonino N, Fallo F et al. Prevalence and natural history of adrenal incidentalomas. Eur J Endocrinol 2003; 149: 273–85.
22. Varan A, Unal S, Ruacan S, Vidinlisan S. Adrenocortical carcinoma associated with adrenogenital syndrome in a child. Med Pediatr Oncol 2000; 35: 88–90.
23. Hague WM, Adams J, Rodda C et al. The prevalence of polycystic ovaries in patients with congenital adrenal hyperplasia and their close relatives. Clin Endocrinol (Oxf) 1990; 33: 501–10.
24. Bryan SM, Honour JW, Hindmarsh PC. Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion. J Clin Endocrinol Metab 2009.
25. Merza Z, Rostami-Hodjegan A, Memmott A, Doane A. Circadian hydrocortisone infusions in patients with adrenal insufficiency and congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 2006; 65: 45–50.
26. Verma S, Sinaii N, Kim MS et al. A pharmacokinetic and pharmacodynamic study of delayed- and extended release hydrocortisone (ChronocortTM) versus conventional hydrocortisone (CortefTM) in the treatment of congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 2010; 72: 441–7.
27. Cabrera MS, Vogiatzi MG, New MI. Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001; 86: 3070–8.
28. Claahsen-van der Grinten HL, Otten BJ, Hermus AR et al. Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage. Fertil Steril 2008; 89: 597–601.
29. Charmandari E, Brook CG, Hindmarsh PC. Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty? Arch Dis Child 2002; 86: 266–9.
30. Hagenfeldt K, Janson PO, Holmdahl G et al. Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod 2008; 23: 1607–13.
31. Faizulin A.K., Batygin M.P., Glybina T.M., Shkityr' Z.V. Sovremennye metody khirurgicheskoi korrektsii porokov naruzhnykh genitalii u devochek s vrozhdennoi disfunktsiei kory nadpochechnikov. Andrologiia i genital'naia khirurgiia. 2011; 3: 69–73. [in Russian]
32. Casteras 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: 833–7.
33. Lo JC, Schwitzgebel VM, Tyrrell JB et al. Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1999; 84: 930–6.
34. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child 2006; 91: 554–63.
35. Dessens AB, Slijper FM, Drop SL. Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 2005; 34: 389–97.
36. Meyer-Bahlburg HF, Dolezal C, Baker SW, New MI. Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 2008; 37: 85–99.
37. Zubkova N.A., Dvorianchikov N.V., Okulov A.B., Kasatkina E.P. Psikhoseksual'nyi status bol'nykh s vrozhdennoi disfunktsiei kory nadpochechnikov. Uspekhi teoreticheskoi i klinicheskoi meditsiny: materialy nauchnykh issledovanii RMAPO. M., 2003; s. 228–9. [in Russian]
38. Meyer-Bahlburg HF. Health-related quality of life in intersexuality. Acta Paediatr Suppl 1999; 88: 114–5.
39. Martin KA, Chang RJ, Ehrmann DA et al. Evaluation and Treatment Of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2008; 93 (Issue 4): 1105–20.
40. Andreeva E.N., Uzhegova Zh.A. Vrozhdennaia disfunktsiia kory nadpochechnikov (adrenogenital'nyi sindrom): skrining, diagnostika, lechenie. Metodicheskie rekomendatsii. M., 2010. [in Russian]
41. Dedov I.I., Krasnopol'skii V.I., Sukhikh G.T. Rossiiskii natsional'nyi konsensus «Gestatsionnyi sakharnyi diabet: diagnostika, lechenie, poslerodovoe nabliudenie». Sakharnyi diabet. 2012; 4: 4–10. [in Russian]

Авторы

Г.А.Мельниченко1, Е.А.Трошина1, Н.В.Молашенко*1, А.И.Сазонова2, Ж.А.Ужегова1

1 ФГБУ Эндокринологический научный центр Минздрава России. 117036, Россия, Москва, ул. Дмитрия Ульянова, д. 11;
2 ФГБУ Научный центр акушерства, гинекологии и перинатологии им. акад. В.И.Кулакова Минздрава России. 117997, Россия, Москва, ул. Академика Опарина, д. 4
*molashenko@mail.ru

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G.A.Melnichenko1, E.A.Troshina1, N.V.Molashenko*1, A.I.Sazonova2, Zh.A.Uzhegova1

1 Endocrinology research center of the Ministry of Health of the Russian Federation. 117036, Russian Federation, Moscow, ul. Dmitria Ul'ianova, d. 11;
2 V.I.Kulakov Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow, ul. Akademika Oparina, d. 4
*molashenko@mail.ru

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