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Врожденная дисфункция коры надпочечников у взрослых пациентов: алгоритм диагностики и лечения
Молашенко Н.В., Сазонова А.И., Трошина Е.А. Врожденная дисфункция коры надпочечников у взрослых пациентов: алгоритм диагностики и лечения. Consilium Medicum. 2017; 19 (4): 70–74.
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Molashenko N.V., Sazonova A.I., Troshina E.A. Congenital adrenal hyperplasia (21-hydroxylase deficiency) in adulthood patients: diagnosis and treatment. Consilium Medicum. 2017; 19 (4): 70–74.
Материалы доступны только для специалистов сферы здравоохранения. Авторизуйтесь или зарегистрируйтесь.
Аннотация
В статье представлены основные подходы к диагностике и лечению 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-гидроксипрогестерон, Синактен.
Ключевые слова: врожденная дисфункция коры надпочечников, неклассическая врожденная дисфункция коры надпочечников, 17-гидроксипрогестерон, Синактен.
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In the article presents the main approaches to the diagnosis and treatment 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 therapy glucocorticoids and mineralocorticoids are considered.
Key words: congenital adrenal hyperplasia, nonclassical congenital adrenal hyperplasia, 17-hydroxyprogesterone, Sinakten.
Полный текст
Список литературы
1. 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. / Mel'nichenko G.A., Troshina E.A., Molashenko N.V. i dr. Klinicheskie rekomendatsii Rossiiskoi assotsiatsii endokrinologov po diagnostike i lechebno-profilakticheskim meropriiatiiam pri vrozhdennoi disfunktsii kory nadpochechnikov u patsientov vo vzroslom vozraste. Consilium Medicum. 2016; 18 (4): 8–19. [in Russian]
2. Карева М.А., Чугунов И.С. Федеральные клинические рекомендации – протоколы по ведению пациентов с врожденной дисфункцией коры надпочечников в детском возрасте. Проблемы эндокринологии. 2014; 60 (2): 42–50. / Kareva M.A., Chugunov I.S. Federal'nye klinicheskie rekomendatsii – protokoly po vedeniiu patsientov s vrozhdennoi disfunktsiei kory nadpochechnikov v detskom vozraste. Problemy endokrinologii. 2014; 60 (2): 42–50. [in Russian]
3. Congenital Adrenal Hyperplasia Due to Steroid 21-hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2010; 95 (9): 4133–60.
4. Сазонова А.И. Соматический статус и метаболические нарушения у взрослых пациентов с различными формами ВДКН. Дис. ... канд. мед наук. М., 2013. / Sazonova A.I. Somaticheskii status i metabolicheskie narusheniia u vzroslykh patsientov s razlichnymi formami VDKN. Dis. ... kand. med nauk. M., 2013. [in Russian]
5. Speiser PW, Dupont B, Rubinstein P et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37: 650–67.
6. 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.
7. 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.
8. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005; 365: 2125–36.
9. New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006; 91: 4205–14.
10. Riepe FG, Krone N, Viemann M et al. Management of congenital adrenal hyperplasia: results of the ESPE questionnaire. Horm Res 2002; 58: 196–205.
11. 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.
12. 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.
13. 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.
14. 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]
15. Kathryn A, Martin R, Jeffrey Ch et al. Swiglo Evaluation and Treatment Of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2008; 93 (Issue 4): 1105–20.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
2. Карева М.А., Чугунов И.С. Федеральные клинические рекомендации – протоколы по ведению пациентов с врожденной дисфункцией коры надпочечников в детском возрасте. Проблемы эндокринологии. 2014; 60 (2): 42–50. / Kareva M.A., Chugunov I.S. Federal'nye klinicheskie rekomendatsii – protokoly po vedeniiu patsientov s vrozhdennoi disfunktsiei kory nadpochechnikov v detskom vozraste. Problemy endokrinologii. 2014; 60 (2): 42–50. [in Russian]
3. Congenital Adrenal Hyperplasia Due to Steroid 21-hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2010; 95 (9): 4133–60.
4. Сазонова А.И. Соматический статус и метаболические нарушения у взрослых пациентов с различными формами ВДКН. Дис. ... канд. мед наук. М., 2013. / Sazonova A.I. Somaticheskii status i metabolicheskie narusheniia u vzroslykh patsientov s razlichnymi formami VDKN. Dis. ... kand. med nauk. M., 2013. [in Russian]
5. Speiser PW, Dupont B, Rubinstein P et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37: 650–67.
6. 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.
7. 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.
8. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005; 365: 2125–36.
9. New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006; 91: 4205–14.
10. Riepe FG, Krone N, Viemann M et al. Management of congenital adrenal hyperplasia: results of the ESPE questionnaire. Horm Res 2002; 58: 196–205.
11. 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.
12. 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.
13. 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.
14. 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]
15. Kathryn A, Martin R, Jeffrey Ch et al. Swiglo Evaluation and Treatment Of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2008; 93 (Issue 4): 1105–20.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
________________________________________________
1. Mel'nichenko G.A., Troshina E.A., Molashenko N.V. i dr. Klinicheskie rekomendatsii Rossiiskoi assotsiatsii endokrinologov po diagnostike i lechebno-profilakticheskim meropriiatiiam pri vrozhdennoi disfunktsii kory nadpochechnikov u patsientov vo vzroslom vozraste. Consilium Medicum. 2016; 18 (4): 8–19. [in Russian]
2. Kareva M.A., Chugunov I.S. Federal'nye klinicheskie rekomendatsii – protokoly po vedeniiu patsientov s vrozhdennoi disfunktsiei kory nadpochechnikov v detskom vozraste. Problemy endokrinologii. 2014; 60 (2): 42–50. [in Russian]
3. Congenital Adrenal Hyperplasia Due to Steroid 21-hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2010; 95 (9): 4133–60.
4. Sazonova A.I. Somaticheskii status i metabolicheskie narusheniia u vzroslykh patsientov s razlichnymi formami VDKN. Dis. ... kand. med nauk. M., 2013. [in Russian]
5. Speiser PW, Dupont B, Rubinstein P et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37: 650–67.
6. 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.
7. 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.
8. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005; 365: 2125–36.
9. New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006; 91: 4205–14.
10. Riepe FG, Krone N, Viemann M et al. Management of congenital adrenal hyperplasia: results of the ESPE questionnaire. Horm Res 2002; 58: 196–205.
11. 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.
12. 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.
13. 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.
14. Andreeva E.N., Uzhegova Zh.A. Vrozhdennaia disfunktsiia kory nadpochechnikov (adrenogenital'nyi sindrom): skrining, diagnostika, lechenie. Metodicheskie rekomendatsii. M., 2010. [in Russian]
15. Kathryn A, Martin R, Jeffrey Ch et al. Swiglo Evaluation and Treatment Of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab 2008; 93 (Issue 4): 1105–20.
16. 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.
17. 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.
18. 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.
19. 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.
20. 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.
Авторы
Н.В.Молашенко*1, А.И.Сазонова2, Е.А.Трошина1
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
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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N.V.Molashenko*1, A.I.Sazonova2, E.A.Troshina1
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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