Рецепт. 2020; : 416-429
Современные подходы к диагностике и лечению наиболее распространенных форм врожденной дисфункции коры надпочечников
https://doi.org/10.34883/PI.2020.2.2.048Аннотация
Врожденная дисфункция коры надпочечников (ВДКН) – это группа аутосомно-рецессивных моногенно наследуемых заболеваний, в основе развития которых лежит мутация в гене белка, участвующего в синтезе гормонов коры надпочечников. На сегодняшний день выделяют 7 форм ВДКН в зависимости от мутации гена. 95% случаев ВДКН представлены мутацией в гене CYP21A2, который кодирует фермент 21-гидроксилазу. В статье представлен обзор актуальной литературы по клиническим проявлениям, диагностике, скринингу и лечению дефицита 21-гидроксилазы. Для клинической картины дефицита 21-гидроксилазы характерны сольтеряющие кризы и формирование гениталий бисексуального типа у новорожденных, преждевременное половое созревание и раннее закрытие эпифизарных зон роста костей у детей, гиперандрогения и нарушения фертильности у взрослых. В зависимости от преобладающих симптомов и сроков их проявления выделяют классическую форму (вирилизирующую, сольтеряющую) и неклассическую (позднюю) клиническую форму дефицита 21-гидроксилазы. С целью своевременной диагностики заболевания обосновано проведение скрининга новорожденных. Базовыми аспектами лечения является заместительная гормональная терапия с коррекцией нарушений электролитного баланса, а также поддержание репродуктивного здоровья пациентов.
Список литературы
1. Delle Piane L., Rinaudo P.F., Miller W.L. (2015) 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio’s classic paper from 1865. Endocrinology, vol. 156, no 4, pp. 1210–1217. doi:10.1210/en.2014-1879
2. Bongiovanni A.M.; Root A.W. (1963) The Adrenogenital Syndrome. The New England Journal of Medicine, vol. 268, no 23, p. 1283–1289.
3. Medvei V.C. (1982) The Birth of Endocrinology. A History of Endocrinology, Lancaster: Springer Science & Business Media, pp. 240–241
4. Kareva M.A., Orlova E.M. (2011) Adrenogenital’nyi sindrom: proshloe, nastoyaschee i buduschee [Adrenogenital Syndrome: Past, Present and Future]. Problems of Endocrinology, vol. 57, no 1, pp. 66–70.
5. Vereschinskii A.O. (1923) Nadpochechno-polovoi sindrom s tochki zreniya hirurgicheskoy patologii i terapii [Adrenal-genital syndrome in terms of surgical pathology and therapy]. Vestnik Hirurgii, vol. 4, pp. 207–219
6. David K., Dingemanse E., Freud J. (1935) Crystalline male hormone from the testes (Testosterone) is more effective than androsterone derived from urine or cholesterin. Hoppe-Seyler’s Z physiol Chem, vol. 233, pp. 281–282
7. Grzybowski A., Pietrzak K. (2012) Tadeusz Reichstein (1897–1996): A cofounder of modern steroid treatment in dermatology. Clinics in Dermatology, vol. 30, pp. 243–247
8. New M.I. (2010) Ancient History of Congenital Adrenal Hyperplasia. Endocrine Development, vol. 20, pp. 202–211.
9. Williams J.S., Williams G.H. (2003) 50th Anniversary of Aldosterone. The Journal of Clinical Endocrinology & Metabolism, vol. 88, no 6, pp. 2364–2372
10. Bartter F.C., Forbes A.P., Leaf A. (1950) Congenital adrenal hyperplasia associated with the adrenogenital syndrome: an attempt to correct its disordered hormonal pattern. J. Clin Invest, vol. 29, no 6, pp. 797.
11. Wilkins L. (1961) Adrenogenital syndrome due to enzymatic defects in cortisol synthesis. Am J. Clin Nutr, vol. 9, pp. 661–668.
12. Money J., Hampson J.G., Hampson J.L. (1955) Hermaphroditism: Recommendations concerning assignment of sex, change of sex, and psychologic management. Bulletin of Johns Hopkins Hospital, vol. 97, pp. 214–300.
13. Pang S., Murphey W., Levine L.S. (1982) A pilot newborn screening for congenital adrenal hyperplasia in Alaska. Journal of Clinical Endocrinology and Metabolism, vol. 55, pp. 413–420.
14. Melmed S., Auchus R.J., Goldfine A.B. (2020) Anatomy and Development, Adrenal Steroids and Steroidogenesis. Williams Textbook Of Endocrinology, 14th Edition, Philadelphia: Elsevier, pp. 480–490.
15. Rees A., Levy M., Lansdown A. (2017) Steroid physiology and biochemical assessment .Clinical Endocrinology and Diabetes at a Glance, Chichester: John Wiley & Sons, pp. 60–62.
16. Russian Association of Endocrinologists (2016) Klinicheskie rekomendatsii. Diagnostika i lechebno-diagnosticheskie meropriyatiya pri vrozhdennoi disfunkcii kory nadpochechnikov u pacientov vo vzroslom vozraste [Clinical guidelines. Diagnosis and treatment of congenital adrenal hyperplasia in adults]. Moscow: RAE. (in Russian)
17. Speiser P.W., Arlt W., Auchus R.J. (2018) Clinical Practice Guideline: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency. An Endocrine Society. Journal of Clinical Endocrinology and Metabolism, vol. 103, no 11, pp. 4043–4088.
18. Kriplani A., Lunkad A., Agarwal N. (2012) A Success Story in Congenital Adrenal Hyperplasia. J. Obstet Gynaecol India, vol. 62, pp. 78–80.
19. Melmed S., Auchus R.J., Goldfine A.B. (2020) Congenital Adrenal Hyperplasia. Williams Textbook of Endocrinology, 14th Edition, Philadelphia: Elsevier, pp. 527–539.
20. Nieman L.K., Merke D.P. (2019) Diagnosis and treatment of nonclassic (late-onset) congenital adrenal hyperplasia due to 21-hydroxylase deficiency. UpToDate (electronic resource), Waltham: UpToDate Inc. Available at: https://www.uptodate.com/contents/diagnosis-and-treatment-of-nonclassic-late-onset-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency (accessed 15 May 2020).
21. Chormanski D., Muzio M.R. (2019) C 17 Hydroxylase Deficiency. StatPearls (electronic journal). Treasure Island (FL): StatPearls Publishing. Available at: https://www.ncbi.nlm.nih.gov/books/NBK546644 (accessed 15 May 2020).
22. Merke D.P. (2019) Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in infants and children. UpToDate (electronic resource), Waltham: UpToDate Inc. Available at: https://www.uptodate.com/contents/diagnosis-of-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-infants-and-children (accessed 15 May 2020).
23. Auchus R.J. (2019) Uncommon congenital adrenal hyperplasias. UpToDate (electronic resource), Waltham: UpToDate Inc. Available at: https:// www.uptodate.com/contents/uncommon-congenital-adrenal-hyperplasias (accessed 15 May 2020).
24. Nordenstrom A., Ahmed S., Jones J. (2005) Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening. Horm Res, vol. 63, no 1, pp. 22–28.
25. Chan C.L., McFann K., Taylor L. (2013) Congenital adrenal hyperplasia and the second newborn screen. J. Pediatr, vol. 163, no 1, pp. 109–113.
26. Held P.K., Shapira S.K., Hinton C.F. (2015) Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states. Mol Genet Metab, vol. 116, no 3, pp.133–138.
27. Ishii T., Anzo M., Adachi M. (2015) Mass Screening Committee, Japanese Society for Pediatric Endocrinology, Japanese Society for Mass Screening, Guidelines for diagnosis and treatment of 21-hydroxylase deficiency. Clin Pediatr Endocrinol, vol. 24, no 3, pp. 77–105.
28. Auchus R.J. Treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults. UpToDate (electronic resource), Waltham: UpToDate Inc. Available at: https://www.uptodate.com/contents/treatment-of-classic-congenital-adrenal-hyperplasia-due-to-21- hydroxylase-deficiency-in-adults (accessed 15 May 2020).
Recipe. 2020; : 416-429
Modern Approaches to the Diagnosis and Treatment of the Most Common Forms of Congenital Adrenal Hyperplasia
https://doi.org/10.34883/PI.2020.2.2.048Abstract
References
1. Delle Piane L., Rinaudo P.F., Miller W.L. (2015) 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio’s classic paper from 1865. Endocrinology, vol. 156, no 4, pp. 1210–1217. doi:10.1210/en.2014-1879
2. Bongiovanni A.M.; Root A.W. (1963) The Adrenogenital Syndrome. The New England Journal of Medicine, vol. 268, no 23, p. 1283–1289.
3. Medvei V.C. (1982) The Birth of Endocrinology. A History of Endocrinology, Lancaster: Springer Science & Business Media, pp. 240–241
4. Kareva M.A., Orlova E.M. (2011) Adrenogenital’nyi sindrom: proshloe, nastoyaschee i buduschee [Adrenogenital Syndrome: Past, Present and Future]. Problems of Endocrinology, vol. 57, no 1, pp. 66–70.
5. Vereschinskii A.O. (1923) Nadpochechno-polovoi sindrom s tochki zreniya hirurgicheskoy patologii i terapii [Adrenal-genital syndrome in terms of surgical pathology and therapy]. Vestnik Hirurgii, vol. 4, pp. 207–219
6. David K., Dingemanse E., Freud J. (1935) Crystalline male hormone from the testes (Testosterone) is more effective than androsterone derived from urine or cholesterin. Hoppe-Seyler’s Z physiol Chem, vol. 233, pp. 281–282
7. Grzybowski A., Pietrzak K. (2012) Tadeusz Reichstein (1897–1996): A cofounder of modern steroid treatment in dermatology. Clinics in Dermatology, vol. 30, pp. 243–247
8. New M.I. (2010) Ancient History of Congenital Adrenal Hyperplasia. Endocrine Development, vol. 20, pp. 202–211.
9. Williams J.S., Williams G.H. (2003) 50th Anniversary of Aldosterone. The Journal of Clinical Endocrinology & Metabolism, vol. 88, no 6, pp. 2364–2372
10. Bartter F.C., Forbes A.P., Leaf A. (1950) Congenital adrenal hyperplasia associated with the adrenogenital syndrome: an attempt to correct its disordered hormonal pattern. J. Clin Invest, vol. 29, no 6, pp. 797.
11. Wilkins L. (1961) Adrenogenital syndrome due to enzymatic defects in cortisol synthesis. Am J. Clin Nutr, vol. 9, pp. 661–668.
12. Money J., Hampson J.G., Hampson J.L. (1955) Hermaphroditism: Recommendations concerning assignment of sex, change of sex, and psychologic management. Bulletin of Johns Hopkins Hospital, vol. 97, pp. 214–300.
13. Pang S., Murphey W., Levine L.S. (1982) A pilot newborn screening for congenital adrenal hyperplasia in Alaska. Journal of Clinical Endocrinology and Metabolism, vol. 55, pp. 413–420.
14. Melmed S., Auchus R.J., Goldfine A.B. (2020) Anatomy and Development, Adrenal Steroids and Steroidogenesis. Williams Textbook Of Endocrinology, 14th Edition, Philadelphia: Elsevier, pp. 480–490.
15. Rees A., Levy M., Lansdown A. (2017) Steroid physiology and biochemical assessment .Clinical Endocrinology and Diabetes at a Glance, Chichester: John Wiley & Sons, pp. 60–62.
16. Russian Association of Endocrinologists (2016) Klinicheskie rekomendatsii. Diagnostika i lechebno-diagnosticheskie meropriyatiya pri vrozhdennoi disfunkcii kory nadpochechnikov u pacientov vo vzroslom vozraste [Clinical guidelines. Diagnosis and treatment of congenital adrenal hyperplasia in adults]. Moscow: RAE. (in Russian)
17. Speiser P.W., Arlt W., Auchus R.J. (2018) Clinical Practice Guideline: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency. An Endocrine Society. Journal of Clinical Endocrinology and Metabolism, vol. 103, no 11, pp. 4043–4088.
18. Kriplani A., Lunkad A., Agarwal N. (2012) A Success Story in Congenital Adrenal Hyperplasia. J. Obstet Gynaecol India, vol. 62, pp. 78–80.
19. Melmed S., Auchus R.J., Goldfine A.B. (2020) Congenital Adrenal Hyperplasia. Williams Textbook of Endocrinology, 14th Edition, Philadelphia: Elsevier, pp. 527–539.
20. Nieman L.K., Merke D.P. (2019) Diagnosis and treatment of nonclassic (late-onset) congenital adrenal hyperplasia due to 21-hydroxylase deficiency. UpToDate (electronic resource), Waltham: UpToDate Inc. Available at: https://www.uptodate.com/contents/diagnosis-and-treatment-of-nonclassic-late-onset-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency (accessed 15 May 2020).
21. Chormanski D., Muzio M.R. (2019) C 17 Hydroxylase Deficiency. StatPearls (electronic journal). Treasure Island (FL): StatPearls Publishing. Available at: https://www.ncbi.nlm.nih.gov/books/NBK546644 (accessed 15 May 2020).
22. Merke D.P. (2019) Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in infants and children. UpToDate (electronic resource), Waltham: UpToDate Inc. Available at: https://www.uptodate.com/contents/diagnosis-of-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-infants-and-children (accessed 15 May 2020).
23. Auchus R.J. (2019) Uncommon congenital adrenal hyperplasias. UpToDate (electronic resource), Waltham: UpToDate Inc. Available at: https:// www.uptodate.com/contents/uncommon-congenital-adrenal-hyperplasias (accessed 15 May 2020).
24. Nordenstrom A., Ahmed S., Jones J. (2005) Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening. Horm Res, vol. 63, no 1, pp. 22–28.
25. Chan C.L., McFann K., Taylor L. (2013) Congenital adrenal hyperplasia and the second newborn screen. J. Pediatr, vol. 163, no 1, pp. 109–113.
26. Held P.K., Shapira S.K., Hinton C.F. (2015) Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states. Mol Genet Metab, vol. 116, no 3, pp.133–138.
27. Ishii T., Anzo M., Adachi M. (2015) Mass Screening Committee, Japanese Society for Pediatric Endocrinology, Japanese Society for Mass Screening, Guidelines for diagnosis and treatment of 21-hydroxylase deficiency. Clin Pediatr Endocrinol, vol. 24, no 3, pp. 77–105.
28. Auchus R.J. Treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults. UpToDate (electronic resource), Waltham: UpToDate Inc. Available at: https://www.uptodate.com/contents/treatment-of-classic-congenital-adrenal-hyperplasia-due-to-21- hydroxylase-deficiency-in-adults (accessed 15 May 2020).
