1. Дедов И.И. [и др.]. Детская эндокринология. Руководство по детской эндокринологии.
2. Дедов И.И., Калинченко Н.Ю., Семичева Т.В. Молекулярный анализ гена CYP21 у пациентов с врожденной дисфункцией коры надпочечников, обусловленной дефицитом 21-гидроксилазы. 2004. (2). С. 3 - 7.
3. Жуковский М.А., Бурая Т.И., Кузнецова Э.С. Врожденные дисфункции коры надпочечников у детей / М.А. Жуковский, Т.И. Бурая, Э.С. Кузнецова. Москва: Медицина. 1977. 280 с.
4. Ионова Т.А., Тюльпаков А.Н., Калиненкова С.Г. Распространенность неклассической формы врожденной дисфункции коры надпочечников (на примере популяции Московской области) // Проблемы эндокринологии. 2013. N 4 (59). С. 18 - 22.
5. Ипатова О.Е. Неонатальный скрининг на адреногенитальный синдром в Архангельской области: клинико-лабораторная интерпретация результатов. 2009. С. 126.
6. Калинченко Н.Ю. Клиническая, гормональная и молекулярная характеристика различных форм врожденной дисфункции коры надподчечников. 2005. С. 126.
7. Карева М.А. Врожденная дисфункция коры надпочечников у детей: эпидемиология, генетическая основа, персонализированный подход к диагностике и лечению, мониторинг соматического и репродуктивного здоровья. 2019. С. 214.
8. Карева М.А., Петеркова В.А. Актуальные вопросы неонатального скрининга на врожденную дисфункцию коры надпочечников // Сборник тезисов Всерос. конф. педиатров-эндокринологов "Достижения эндокринологии - здоровью детей". 2011. С. 4 - 6.
9. Касаткина Э.П. Врожденная дисфункция коры надпочечников у детей. 1965.
10. Копылова И.В. Состояние эстрогенчувствительных тканей у девочек с классическими формами врожденной дисфункции коры надпочечников. 2015. С. 132.
11. Окулов А.Б., Негмаджанов Б.Б. Хирургические болезни репродуктивной системы и секстрансформационные операции: Руководство для врачей / А.Б. Окулов, Б.Б. Негмаджанов. Москва: Медицина, 2000. 193 с.
12. Свинарев М.Ю. [и др.]. Неонатальный скрининг на ВДКН в Саратовской области. 2011. С. 19 - 20.
13. Тебиева И.С. [и др.]. Генетические аспекты врожденной дисфункции коры надпочечников в Республике Северная Осетия - Алания // Научно-практический журнал "Медицинская генетика". 2019. N 6. Часть 18.
14. Файзулин А.К. [и др.]. Современные методы хирургической коррекции пороков наружных гениталий у девочек с врожденной дисфункцией коры надпочечников. 2011. (3). С. 69 - 73.
15. Фомина М.А. [и др.]. Оценка результатов феминизирующей пластики у девочек-подростков с врожденной дисфункцией коры надпочечников в отдаленном послеоперационном периоде. 2010. (2). С. 35 - 39.
16. Храмова Е.Б. Эпидемиология, скрининг, диагностика врожденной дисфункции коры надпочечников в Западно-Сибирском регионе. 2007. С. 266.
17. Arlt W. [и др.]. Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients // The Journal of Clinical Endocrinology and Metabolism. 2010. N 11 (95). C. 5110 - 5121.
18. Armengaud J.-B. [и др.]. Precocious Pubarche: Distinguishing Late-Onset Congenital Adrenal Hyperplasia from Premature Adrenarche // The Journal of Clinical Endocrinology & Metabolism. 2009. N 8 (94). C. 2835 - 2840.
19. Balsamo A. [и др.]. Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant // Frontiers in Pediatrics. 2020. (8). C. 593315.
20. Bidet M. [и др.]. 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 // The Journal of Clinical Endocrinology and Metabolism. 2009. N 5 (94). C. 1570 - 1578.
21. Bonfig W. [и др.]. Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty // The Journal of Clinical Endocrinology and Metabolism. 2007. N 5 (92). C. 1635 - 1639.
22. Bonfig W. [и др.]. Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation // The Journal of Clinical Endocrinology and Metabolism. 2009. N 10 (94). C. 3882 - 3888.
23. Bonfig W. [и др.]. Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency // American Journal of Hypertension. 2016. N 2 (29). C. 266 - 272.
24. Bonfig W. [и др.]. Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose // Hormone Research in Paediatrics. 2018. N 1 (89). C. 7 - 12.
25. Bonfig W., Schwarz H. P. Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4 years of age // Clinical Endocrinology. 2014. N 6 (81). C. 871 - 875.
26. Brosnan P.G. [и др.]. Effect of newborn screening for congenital adrenal hyperplasia // Archives of Pediatrics & Adolescent Medicine. 1999. N 12 (153). C. 1272 - 1278.
27. Bulsari K., Falhammar H. Clinical perspectives in congenital adrenal hyperplasia due to
deficiency // Endocrine. 2017. N 1 (55). C. 19 - 36.
28. Carmina E. [и др.]. Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women // Human Reproduction Update. 2017. N 5 (23). C. 580 - 599.
29. Charmandari E. [и др.]. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty // The Journal of Clinical Endocrinology and Metabolism. 2001. N 6 (86). C. 2701 - 2708.
30. Concolino P., Costella A. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene // Molecular Diagnosis & Therapy. 2018. N 3 (22). C. 261 - 280.
31. Dacou-Voutetakis C., Karidis N. Congenital adrenal hyperplasia complicated by central precocious puberty: treatment with LHRH-agonist analogue // Annals of the New York Academy of Sciences. 1993. (687). C. 250 - 254.
32. El-Maouche D. [и др.]. Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia // The Journal of Clinical Endocrinology and Metabolism. 2018. N 6 (103). C. 2336 - 2345.
33. El-Maouche D., Arlt W., Merke D.P. Congenital adrenal hyperplasia // Lancet (London, England). 2017. N 10108 (390). C. 2194 - 2210.
34. Falhammar H.,
Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome // Endocrine. 2015. N 1 (50). C. 32 - 50.
35. Finkielstain G.P. [и др.]. Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia // The Journal of clinical endocrinology and metabolism. 2012.
36.
, Miller W.L. P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia // Current Opinion in Pediatrics. 2006. N 4 (18). C. 435 - 441.
37. Frisch H. [и др.]. Salt wasting in simple virilizing congenital adrenal hyperplasia // Journal of pediatric endocrinology & metabolism: JPEM. 2001. N 9 (14). C. 1649 - 1655.
38. Hannah-Shmouni F. [и др.]. Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians // Genetics in Medicine. 2017. N 11 (19). C. 1276 - 1279.
39. Hannah-Shmouni F., Chen W., Merke D.P. Genetics of Congenital Adrenal Hyperplasia // Best practice & research. Clinical endocrinology & metabolism. 2009. N 2 (23). C. 181 - 192.
40. Hird B.E. [и др.]. No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening // Archives of Disease in Childhood. 2014. N 2 (99). C. 158 - 164.
41. Houben C.H. [и др.]. Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital // Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi. 2014. N 6 (20). C. 481 - 485.
42. Janzen N. [и др.]. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry // The Journal of Clinical Endocrinology and Metabolism. 2007. N 7 (92). C. 2581 - 2589.
43. Janzen N. [и др.]. Neonatal screening: identification of children with
deficiency by second-tier testing // Hormone Research in Paediatrics. 2012. N 3 (77). C. 195 - 199.
44. Kamp H.J. van der [и др.]. Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight // The Journal of Clinical Endocrinology and Metabolism. 2005. N 7 (90). C. 3904 - 3907.
45. Kennedy E.C. [и др.]. Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical
deficiency // Journal of pediatric endocrinology & metabolism: JPEM. 2024. N 12 (37). C. 1100 - 1103.
46.
,
Non-Classical Congenital Adrenal Hyperplasia in Childhood // Journal of Clinical Research in Pediatric Endocrinology. 2017. N 1 (9). C. 1 - 7.
47. Lacey J.M. [и др.]. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry // Clinical Chemistry. 2004. N 3 (50). C. 621 - 625.
48. Lundberg T. [и др.]. From Knowing Nothing to Knowing What, How and Now: Parents' Experiences of Caring for their Children With Congenital Adrenal Hyperplasia // Journal of Pediatric Psychology. 2017. N 5 (42). C. 520 - 529.
49. Matern D. [и др.]. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004 - 2007) // Journal of Inherited Metabolic Disease. 2007. N 4 (30). C. 585 - 592.
50. Melcescu E. [и др.]. 11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension // Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme. 2012. N 12 (44). C. 867 - 878.
51. Mercado Santis E. [и др.]. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: clinical, biochemical and molecular characteristics and long-term outcomes // Anales de
(English Edition). 2025. N 2 (102).
52.
[и др.]. Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21-hydroxylase (CYP21A2) deficiency: a systematic review and meta-analyses // Clinical Endocrinology. 2010. N 4 (73). C. 436 - 444.
53. Merke D.P. [и др.]. Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia // The Journal of Clinical Endocrinology and Metabolism. 2000. N 3 (85). C. 1114 - 1120.
54. Meyer-Bahlburg H.F.L. [и др.]. Cognitive and motor development of children with and without congenital adrenal hyperplasia after early-prenatal dexamethasone // The Journal of Clinical Endocrinology and Metabolism. 2004. N 2 (89). C. 610 - 614.
55. Mieszczak J., Houk C.P., Lee P.A. Assignment of the sex of rearing in the neonate with a disorder of sex development // Current Opinion in Pediatrics. 2009. N 4 (21). C. 541 - 547.
56. Miller W.L. The syndrome of 17,20 lyase deficiency // The Journal of Clinical Endocrinology and Metabolism. 2012. N 1 (97). C. 59 - 67.
57. Minutti C.Z. [и др.]. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia // The Journal of Clinical Endocrinology and Metabolism. 2004. N 8 (89). C. 3687 - 3693.
58. Mullis P.E., Hindmarsh P.C., Brook C.G. Sodium chloride supplement at diagnosis and during infancy in children with salt-losing 21-hydroxylase deficiency // European Journal of Pediatrics. 1990. N 1 (150). C. 22 - 25.
59. Muthusamy K. [и др.]. Clinical review: Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis // The Journal of Clinical Endocrinology and Metabolism. 2010. N 9 (95). C. 4161 - 4172.
60. New M.I. [и др.]. Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies // The Journal of Clinical Endocrinology and Metabolism. 2001. N 12 (86). C. 5651 - 5657.
61. Nimkarn S. [и др.]. Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia // The Journal of Clinical Endocrinology and Metabolism. 2007. N 1 (92). C. 137 - 142.
62.
[и др.]. Pediatric Adrenal Insufficiency: Challenges and Solutions // Therapeutics and Clinical Risk Management. 2022. (18). C. 47 - 60.
63.
, Thyen U. Improving the communication of healthcare professionals with affected children and adolescents // Endocrine Development. 2014. (27). C. 113 - 127.
64. Nowotny H. [и др.]. Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis // Endocrine. 2021. N 3 (71). C. 586 - 594.
65. Pang S.Y. [и др.]. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency // Pediatrics. 1988. N 6 (81). C. 866 - 874.
66. Pinto E.M., Zambetti G.P., Rodriguez-Galindo C. Pediatric adrenocortical tumours // Best Practice & Research Clinical Endocrinology & Metabolism. 2020. N 3 (34). C. 101448.
67. Quintos J.B.Q. [и др.]. Growth Hormone Therapy Alone or in Combination with Gonadotropin-Releasing Hormone Analog Therapy to Improve the Height Deficit in Children with Congenital Adrenal Hyperplasia1 // The Journal of Clinical Endocrinology & Metabolism. 2001. N 4 (86). C. 1511 - 1517.
68. Rauh M. [и др.]. Automated, fast and sensitive quantification of 17 alpha-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction // Steroids. 2006. N 6 (71). C. 450 - 458.
69. Ray J.A. [и др.]. Performance enhancement in the measurement of 5 endogenous steroids by LC-MS/MS combined with differential ion mobility spectrometry // Clinica Chimica Acta; International Journal of Clinical Chemistry. 2015. (438). C. 330 - 336.
70. Raza J., Zaidi S.Z., Warne G.L. Management of disorders of sex development - With a focus on development of the child and adolescent through the pubertal years // Best Practice & Research. Clinical Endocrinology & Metabolism. 2019. N 3 (33). C. 101297.
71. Rushworth R.L., Torpy D.J., Falhammar H. Adrenal Crisis // New England Journal of Medicine. 2019. N 9 (381). C. 852 - 861.
72. Sanches S.A. [и др.]. Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population // International Journal of Pediatric Endocrinology. 2012. N 1 (2012). C. 2.
73.
[и др.]. Testicular tumours in children: an approach to diagnosis and management with pathologic correlation // Insights into Imaging. 2020. N 1 (11). C. 74.
74. Shah R.U. [и др.]. Imaging of Pediatric Pelvic Neoplasms // Radiologic Clinics of North America. 2011. N 4 (49). C. 729 - 748.
75. Shulman D.I. [и др.]. Adrenal insufficiency: still a cause of morbidity and death in childhood // Pediatrics. 2007. N 2 (119). C. e484-494.
76. Speiser P.W. [и др.]. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline // The Journal of Clinical Endocrinology and Metabolism. 2010. N 9 (95). C. 4133 - 4160.
77. Speiser P.W. Emerging medical therapies for congenital adrenal hyperplasia // F1000Research. 2019. (8). C. 363.
78. Speiser P.W., White P.C. Congenital adrenal hyperplasia // The New England Journal of Medicine. 2003. N 8 (349). C. 776 - 788.
79. Sturm R.M., Durbin-Johnson B., Kurzrock E.A. Congenital adrenal hyperplasia: current surgical management at academic medical centers in the United States // The Journal of Urology. 2015. N 5 Suppl (193). C. 1796 - 1801.
80. T. Mushtaq [и др.]. Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance // Archives of disease in childhood. 2023. N 11 (108).
81. Therrell B.L. [и др.]. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia // Pediatrics. 1998. N 4 Pt 1 (101). C. 583 - 590.
82. Thil'en A. [и др.]. Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden // Pediatrics. 1998. N 4 (101). C. E11.
83. Trapp C.M., Oberfield S.E. Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update // Steroids. 2012. N 4 (77). C. 342 - 346.
84. Turcu A.F., Auchus R.J. Adrenal steroidogenesis and congenital adrenal hyperplasia // Endocrinology and Metabolism Clinics of North America. 2015. N 2 (44). C. 275 - 296.
85. Van der Kamp H.J. [и др.]. Newborn screening for congenital adrenal hyperplasia in the Netherlands // Pediatrics. 2001. N 6 (108). C. 1320 - 1324.
86. Van der Kamp H.J. [и др.]. Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients // Archives of Disease in Childhood. 2002. N 2 (87). C. 139 - 144.
87. Walia R. [и др.]. Disorders of sex development: a study of 194 cases // Endocrine Connections. 2018. N 2 (7). C. 364 - 371.
88. Weise M. [и др.]. Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise // The Journal of Clinical Endocrinology and Metabolism. 2004. N 8 (89). C. 3679 - 3684.
89. White P.C. Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency // Current Opinion in Endocrinology, Diabetes, and Obesity. 2018. N 3 (25). C. 178 - 184.
90. Whitehead F.J. [и др.]. Dehydration deaths in infants and young children // The American Journal of Forensic Medicine and Pathology. 1996. N 1 (17). C. 73 - 78.
91. Woodcock T. [и др.]. Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency: Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK // Anaesthesia. 2020. N 5 (75). C. 654 - 663.
92. Yanase T. [и др.]. Molecular basis of
/17,20-lyase deficiency // The Journal of Steroid Biochemistry and Molecular Biology. 1992. N 8 (43). C. 973 - 979.
93. Yankovic F. [и др.]. Current practice in feminizing surgery for congenital adrenal hyperplasia; a specialist survey // Journal of Pediatric Urology. 2013. N 6 Pt B (9). C. 1103 - 1107.
94. Клинические рекомендации "Преждевременное половое развитие". Российская ассоциация эндокринологов. Год утверждения: 2024. URL: https://cr.minzdrav.gov.ru/view-cr/648_2 (дата обращения: 01.04.2025).
- Гражданский кодекс (ГК РФ)
- Жилищный кодекс (ЖК РФ)
- Налоговый кодекс (НК РФ)
- Трудовой кодекс (ТК РФ)
- Уголовный кодекс (УК РФ)
- Бюджетный кодекс (БК РФ)
- Арбитражный процессуальный кодекс
- Конституция РФ
- Земельный кодекс (ЗК РФ)
- Лесной кодекс (ЛК РФ)
- Семейный кодекс (СК РФ)
- Уголовно-исполнительный кодекс
- Уголовно-процессуальный кодекс
- Производственный календарь на 2025 год
- МРОТ 2025
- ФЗ «О банкротстве»
- О защите прав потребителей (ЗОЗПП)
- Об исполнительном производстве
- О персональных данных
- О налогах на имущество физических лиц
- О средствах массовой информации
- Производственный календарь на 2026 год
- Федеральный закон "О полиции" N 3-ФЗ
- Расходы организации ПБУ 10/99
- Минимальный размер оплаты труда (МРОТ)
- Календарь бухгалтера на 2025 год
- Частичная мобилизация: обзор новостей
- Постановление Правительства РФ N 1875