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СПИСОК ЛИТЕРАТУРЫ

  1. Федеральные клинические рекомендации – протоколы по ведению пациентов с врожденной дисфункцией коры надпочечников в детском возрасте, Проблемы эндокринологии №2, 2014 г, с 42-50;
  2. Congenital Adrenal Hyperplasia Due to Steroid 21-hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline Journal of Clinical Endocrinology & Metabolism, September 2010, Vol. 95(9):4133–4160;
  3. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI 1985 High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 37:650–667
  4. Сазонова А.И. «Соматический статус и метаболические нарушения у взрослых пациентов с различными формами ВДКН», диссертация на соискание ученой степени кандидата медицинских наук, Москва, 2013;
  5. Azziz R, Hincapie LA, Knochenhauer ES, Dewailly D, Fox L, Boots LR 1999 Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study. Fertil Steril 72:915–925;
  6. Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL, Claustre A, Mornet E, Chakhtoura Z, Mowszowicz I, Bachelot A, Touraine P, Kuttenn F 2009 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 94:1570–1578;
  7. Török D, Halasz Z, Garami M, Homoki J, Fekete G, Sólyom J 2003 Limited value of serum steroid measurements in identification of mild form of 21-hydroxylase deficiency. E xp Clin Endocrinol Diabetes 111:27–32;
  8. Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Golmard JL, Tardy V, Morel Y, Clauin S, Coussieu C, Boudou P, Mowzowicz I, Bachelot A, Touraine P, Kuttenn F 2010 Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 95:1182–1190;
  9. Moran C, Azziz R, Weintrob N, Witchel SF, Rohmer V, Dewailly D, Marcondes JA, Pugeat M, Speiser PW, Pignatelli D, Mendonca BB, Bachega TA, Escobar-Morreale HF, Carmina E, Fruzzetti F, Kelestimur F 2006 Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. J Clin E ndocrinol Metab 91:3451–3456;
  10. New MI 2006 Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 91:4205–4214;
  11. Riepe FG, Krone N, Viemann M, Partsch CJ, Sippell WG 2002 Management of congenital adrenal hyperplasia: results of the ESPE questionnaire. Horm Res 58:196–205;
  12. Brunton LL. Goodman & Gilman’s the pharmacological basis of therapeutics. McGraw Hill 2006;
  13. Charmandari E, Matthews DR, Johnston A, Brook CG, Hindmarsh PC 2001 Serum cortisol and 17-hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory? J Clin Endocrinol Metab 86:4679–4685;
  14. Rosenfield RL 2002 Serum cortisol and 17-hydroxyprogesterone concentrations in children with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 87:2993;
  15. Spritzer P, Billaud L, Thalabard JC, Birman P, Mowszowicz I, Raux-Demay MC, Clair F, Kuttenn F, Mauvais-Jarvis P 1990 Cyproterone acetate versus hydrocortisone treatment in late- onset adrenal hyperplasia. J Clin Endocrinol Metab 70:642–646;
  16. Merke DP, Bornstein SR 2005 Congenital adrenal hyperplasia. Lancet 365:2125–2136;

  1. Stikkelbroeck, N.M., Oyen, W.J., Van der Wilt, G.J., Hermus, A.R. & Otten, B.J., (2003) Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 88, 1036-1042;
  2. Falhammar, H., Filipsson, H., Holmdahl, G., Janson, P., Nordenkskjöld, A., Hagenfeldt, K. & Thorén, M. (2007) Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 92, 110-116;
  3. Zimmermann A, Grigorescu-Sido P, AlKhzouz C, Patberg K, Bucerzan S, Schulze E, Zimmermann T, Rossmann H, Geiss HC, Lackner KJ, Weber MM. 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;
  4. Bachelot A, Chakhtoura Z, Samara-Boustani D, Dulon J, Touraine P, Polak M. Bone health should be an important concern in the care of patients affected by 21 hydroxylase deficiency. Int J Pediatr Endocrinol. 2010;
  5. Barzon L, Sonino N, Fallo F, Palu G, Boscaro M 2003 Prevalence and natural history of adrenal incidentalomas. Eur J Endocrinol 149:273–285;
  6. Varan A, Unal S, Ruacan S, Vidinlisan S 2000 Adrenocortical carcinoma associated with adrenogenital syndrome in a child. Med Pediatr Oncol 35:88–90
  7. Hague WM, Adams J, Rodda C, Brook CG, de Bruyn R, Grant DB, Jacobs HS 1990 The prevalence of polycystic ovaries in patients with congenital adrenal hyperplasia and their close relatives. Clin Endocrinol (Oxf) 33:501–510;
  8. Bryan SM, Honour JW, Hindmarsh PC 2009 Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion. J Clin Endocrinol Metab;
  9. Merza Z, Rostami-Hodjegan A, Memmott A, Doane A, 2006 Circadian hydrocortisone infusions in patients with adrenal insufficiency and congenital adrenal hyperplasia. Clin E ndocrinol (Oxf) 65:45–50;
  10. Verma S, Sinaii N, Kim MS, Nieman LK, Ravindran S, Calis KA, Arlt W, Ross RJ, Merke DP 2010 A pharmacokinetic and pharmacodynamic study of delayed- and extended release hydrocortisone (Chronocort™) versus conventional hydrocortisone (Cortef™) in the treatment of congenital adrenal hyperplasia. Clin Endocrinol (Oxf)72: 441–447;
  11. Cabrera MS, Vogiatzi MG, New MI 2001 Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 86:3070–3078;
  12. Claahsen-van der Grinten HL, Otten BJ, Hermus AR, Sweep FC, Hulsbergen-van de Kaa CA 2008 Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage. Fertil S teril 89:597–601;
  13. Charmandari E, Brook CG, Hindmarsh PC 2002 Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty? Arch Dis Child 86:266– 269;

  1. Hagenfeldt K, Janson PO, Holmdahl G, Falhammar H, Filipsson H, Frisén L, Thore´n M, Nordenskjöld A 2008 Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod 23:1607–1613;
  2. 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.-N 3.-С.69- 73;
  3. Casteras A, D e S ilva P, Rumsby G, Conway GS 2009 Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate. Clin E ndocrinol (Oxf) 70:833–837;
  4. Lo JC, Schwitzgebel VM, Tyrrell JB, Fitzgerald PA, Kaplan SL, Conte FA, Grumbach MM 1999 Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin E ndocrinol Metab 84:930–936;
  5. Hughes IA, Houk C, Ahmed SF, Lee PA 2006 Consensus statement on management of intersex disorders. Arch Dis Child 91:554–563;
  6. Dessens AB, Slijper FM, Drop SL 2005 Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 34:389–397;
  7. Meyer-Bahlburg HF, Dolezal C, Baker SW, New MI 2008 Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. Arch Sex Behav 37:85–99;
  8. 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. – Москва. – 2003. – с. 228-229;
  9. Meyer-Bahlburg HF 1999 Health-related quality of life in intersexuality. Acta Paediatr Suppl 88:114–115;
  10. Kathryn A. Martin, R. Jeffrey Chang, David A. Ehrmann, Lourdes Ibanez, Rogerio A. Lobo, Robert L.Rosenfield, Jerry Shapiro, Victor M. Montori, and Brian A. Swiglo Evaluation and Treatment Of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline. The Journal of Clinical Endocrinology & Metabolism, Vol. 93, issue 4, pages 1105- 1120, 2008;
  11. Врожденная дисфункция коры надпочечников (адреногенитальный синдром) скрининг, диагностика, лечение. Андреева Е.Н., Ужегова Ж.А., методические рекомендации, Москва, 2010;
  12. Дедов И.И., Краснопольский В.И., Сухих Г.Т. Российский национальный консенсус

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