Справка
x
Поиск
Закладки
Озвучить книгу
Изменить режим чтения
Изменить размер шрифта
Оглавление
Для озвучивания и цитирования книги перейдите в режим постраничного просмотра.
Врожденная дисфункция коры надпочечников (адреногенитальный синдром)
Список литературы
Поставить закладку
Мельниченко Г.А., Трошина Е.А., Молашенко Н.В., Сазонова А.И., Ужегова Ж.А. Клинические рекомендации Российской ассоциации эндокринологов по диагностике и лечебно-профилактическим мероприятиям при врожденной дисфункции коры надпочечников у пациентов во взрослом возрасте Consilium Medicum № 4, том 18, 2016, стр 8-19.
Федеральные клинические рекомендации – протоколы по ведению пациентов с врожденной дисфункцией коры надпочечников в детском возрасте, Проблемы эндокринологии №2, 2014 г, с 42-50.
Congenital Adrenal Hyperplasia Due to Steroid 21-hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline Journal of Clinical Endocrinology & Metabolism, November 2018, Vol. 103(11):4043–4088.
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
.
Карева Мария Андреевна Врожденная дисфункция коры надпочечников у детей: эпидемиология, генетическая основа, персонализированный подход к диагностике и лечению, мониторинг соматического и репродуктивного здоровья, диссертация на соискание ученой степени доктора медицинских наук, Москва, 2019
.
Эндокринология. Национальное руководство под ред. И.. Дедова, Г.А. Мельниченко, Москва: ГЭОТАР-Медиа, 2016. - 1112 с. - ISBN 978-5-9704-3682
Кунаева О.В., Зернова Л.Ю., Коваленко Татьяна Викторовна, Осипова Е.В. Итоги и перспективы неонатального скрининга врожденной дисфункции коры надпочечников: региональные аспекты //Лечение и профилактика – 2014 - № 1 (9) -С. 10-15.
Свинарев М.Ю., Андреева Л.П., Аракович В.В., Иванова С.Б. и др. Неонатальный скрининг на ВДКН в Саратовской области//Сборник тезисов Всерос. конф. педиатров-эндокринологов «Достижения эндокринологии -здоровью детей» - М., 2011. -С. 19 -20.
Храмова Е.Б. Эпидемиология, скрининг, диагностика врожденной дисфункции коры надпочечников в Западно-Сибирском регионе. Диссертация на соискание ученой степени доктора медицинских наук. Тюмень – 2007
Gidlöf S, Wedell A, Guthenberg C, von DÖbeln U, Nordenström A. Nationwide neonatal screening for congenital adrenal hyperplasia in Sweden: a 26-year longitudinal prospective populationbased study.JAMA Pediatr. 2014;168(6):567–574.
Van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol. 2004;151(Suppl 3): U71–U75.
Pang S, Shook MK. Current status of neonatal screening for congenital adrenal hyperplasia. Curr Opin Pediatr. 1997;9(4): 419–423.
Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001;30(1):15–30.
Brosnan PG, Brosnan CA, Kemp SF, Domek DB, Jelley DH, Blackett PR, Riley WJ. Effect of newborn screening for congenital adrenal hyperplasia.Arch Pediatr Adolesc Med. 1999;153(12): 1272–1278.
GidlÖf S, Falhammar H, Thilén A, von DÖbeln U, Ritzén M, Wedell A, Nordenström A. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population- based cohort study. Lancet Diabetes Endocrinol. 2013;1(1):35–42.
Armengaud JB, Charkaluk ML, Trivin C, Tardy V, Bre´art G, Brauner R, Chalumeau M Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche. J Clin Endocrinol Metab 2009;94:2835–2840
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 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– 1578.
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.
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.
20 Speiser PW, White PC. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.Clin Endocrinol (Oxf). 1998; 49(4):411–417.
Wedell A, Thil´en A, Ritzén EM, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.J Clin Endocrinol Metab. 1994;78(5):1145–1152
Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem. 2004;50(3):621–625.
Rauh M, Groschl M, RascherW, Dörr HG. Automated, fast and sensitive quantification of 17a-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with online extraction. Steroids. 2006;71(6):450–458.
Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, Sander J. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatographytandem mass spectrometry. J Clin Endocrinol Metab. 2007;92(7): 2581– 2589.
Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2004;89(8):3687–3693.
Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004–2007). J Inherit Metab Dis. 2007;30(4): 585–592.
Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M, Longo N, Pasquali M. Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. Pediatr Res. 2009;66(2): 230–235.
Seo JY, Park H-D, Kim JW, Oh HJ, Yang JS, Chang YS, Park WS, Lee S-Y. Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation. J Perinat Med. 2014;42(1):121–127.
New MI Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006;91:4205–4214.
Merke DP, Bornstein SR 2005 Congenital adrenal hyperplasia. Lancet 365:2125–2136.
Abdu TA, Elhadd TA, Neary R, Clayton RN. Comparison of the low dose short synacthen test (1 mg), the conventional dose short synacthen test (250 mg), and the insulin tolerance test for assessment of the hypothalamo-pituitary-adrenal axis in patients with pituitary disease. J Clin Endocrinol Metab. 1999;84(3): 838–843.
Silveira EL, Elnecave RH, dos Santos EP, Moura V, Pinto EM, van der Linden Nader I, Mendonca BB, Bachega TA. Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia. Clin Genet. 2009;76(6):503–510.
Blanch´eH, Vexiau P, Clauin S, Le Gall I, Fiet J, Mornet E, Dausset J, Bellann´e-Chantelot C. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. Hum Genet. 1997;101(1):56–60.
Deneux C, Tardy V, Dib A, Mornet E, Billaud L, Charron D, Morel Y, Kuttenn F. Phenotype- genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2001;86(1): 207–213.
Yang YP, Corley N, Garcia-Heras J. Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21- hydroxylase deficiency. Mol Diagn. 2001;6(3):193–199.
Fitness J, Dixit N, Webster D, Torresani T, Pergolizzi R, SpeiserPW, Day DJ. Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1999;84(3): 960–966.
N´emeth S, Riedl S, Kriegsh¨ auser G, Baumgartner-Parzer S, Concolino P, Neocleous V, Phylactou LA, Borucka-Mankiewicz M, Onay H, Tukun A, Oberkanins C. Reverse- hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone. Clin Chim Acta. 2012;414:211–214.
Costa-Barbosa FA, Carvalho VM, Nakamura OH, Bachega T, Vieira JGH, Kater CE. Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: further characterization of classic and non-classic patients and heterozygote carriers. J Endocrinol Invest. 2011; 34(8):587–592.
Balsamo A, Cacciari E, Baldazzi L, Tartaglia L, Cassio A, Mantovani V, Piazzi S, Cicognani A, Pirazzoli P, Mainetti B, Zappulla F. CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia–Romagna region. Clin Endocrinol (Oxf). 2000;53(1):117–125.
Wedell A, Ritz´en EM, Haglund-Stengler B, Luthman H. Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci USA. 1992;89(15):7232–7236.
Claahsen-van der Grinten HL, Dehzad F, Kamphuis-van Ulzen K, de Korte CL. Increased prevalence of testicular adrenal rest tumours during adolescence in congenital adrenal hyperplasia. Horm Res Paediatr. 2014;82(4):238–244.
Claahsen-van der Grinten HL, Otten BJ, Takahashi S,MeulemanEJ, Hulsbergen-van de Kaa C, Sweep FC, Hermus ARMM. Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients. J Clin Endocrinol Metab. 2007;92(2):612– 615.
Auchus RJ, Arlt W. Approach to the patient: the adult with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013; 98(7):2645–2655.
Reisch N, Rottenkolber M, Greifenstein A, Krone N, Schmidt H, Reincke M, Schwarz HP, Beuschlein F. Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2013;98(11):E1820–E1826.
Falhammar H, Nyström HF, Ekström U, Granberg S, Wedell A, Thorén M. Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia. Eur J Endocrinol. 2012;166(3):441–449.
Reisch N, Flade L, Scherr M, Rottenkolber M, Pedrosa Gil F, BidlingmaierM,Wolff H, Schwarz HP, Quinkler M, Beuschlein F, Reincke M. High prevalence of reduced fecundity in men with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2009; 94(5):1665–1670.
Stikkelbroeck NMML, Otten BJ, Pasic A, Jager GJ, Sweep CG, Noordam K, Hermus ARMM. High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2001;86(12):5721–5728.
Martinez-Aguayo A, Rocha A, Rojas N, Garc´ıa C, Parra R, Lagos M, Valdivia L, Poggi H, Cattani A; Chilean Collaborative Testicular Adrenal Rest Tumor Study Group. Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2007; 92(12):4583–4589.
Stikkelbroeck NMML, Hermus ARMM, Suliman HM, Jager GJ, Otten BJ. Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years. J Pediatr Endocrinol Metab. 2004;17(4):645–653.
Bouvattier C, Esterle L, Renoult-Pierre P, de la Perri`ere AB, Illouz F, Kerlan V, Pascal- Vigneron V, Drui D, Christin-Maitre S, Galland F, Brue T, Reznik Y, Schillo F, Pinsard D, Piguel X, Chabrier G, Decoudier B, Emy P, Tauveron I, Raffin-Sanson ML, Bertherat J, Kuhn JM, Caron P, Cartigny M, Chabre O, Dewailly D, Morel Y, Touraine P, Tardy-Guidollet V, Young J. Clinical outcome, hormonal status, gonadotrope axis, and testicular function in 219 adult men born with classic 21-hydroxylase deficiency. A French national survey. J Clin Endocrinol Metab. 2015;100(6):2303–2313.
Cabrera MS, Vogiatzi MG, New MI. Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2001;86(7):3070–3078.
Jääskeläinen, Voutilainen R. Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life. Acta Paediatr. 2000;89(2):183–187.
Chen HD, Huang LE, Zhong ZH, Su Z, Jiang H, Zeng J, Liu JC. Ovarian adrenal rest tumors undetected by imaging studies and identified at surgery in three females with congenital adrenal hyperplasia unresponsive to increased hormone therapy dosage. Endocr Pathol. 2017;28(2):146–151.
Zaarour MG1, Atallah DM2, Trak-Smayra VE, Halaby GH1 Bilateral ovary adrenal rest tumor in a congenital adrenal hyperplasia following adrenalectomy. Endocr.Pract 2014 Apr;20(4):e69-74. doi: 10.4158/EP13092.CR.
Tiosano D1, Vlodavsky E, Filmar S, Weiner Z, Goldsher D, Bar-Shalom R. Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomy. Horm Res Paediatr. 2010;74(3):223-8. doi: 10.1159/000295722. Epub 2010 May 1.
Pina C, Khattab A, Katzman P, Bruckner L, Andolina J, New M, Yau M. Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy J Pediatr Endocrinol Metab. 2015 May;28(5-6):663-7. doi: 10.1515/jpem- 2014-0299.
Adamantios M. Mellis, Blake W. Palmer, Amy B. Wisniewski, Gennady Slobodov. Department of Urology, University of Oklahoma Health Sciences Center, Oklahoma City, OK Ovarian adrenal rest tumour in a patient with chronically untreated congenital adrenal hyperplasia (CAH) BJU International Journai 27 Jul 2011
Barzon L, Sonino N, Fallo F, Palu G, Boscaro M. Prevalence and natural history of adrenal incidentalomas. Eur J Endocrinol. 2003;149(4):273–285.
Kloos RT, Gross MD, Francis IR, Korobkin M, Shapiro B. Incidentally discovered adrenal masses. Endocr Rev. 1995;16(4): 460–484.
Jaresch S, Kornely E, Kley HK, Schlaghecke R. Adrenal incidentaloma and patients with homozygous or heterozygous congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1992;74(3): 685–689.
Barzon L, Maffei P, Sonino N, Pilon C, Baldazzi L, Balsamo A, Del Maschio O, Masi G, Trevisan M, Pacenti M, Fallo F. The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience. J Endocrinol Invest. 2007;30(7):615–623.
Varan A, Unal S, Ruacan S, Vidinlisan S. Adrenocortical carcinoma associated with adrenogenital syndrome in a child. Med Pediatr Oncol. 2000;35(1):88–90.
Nermoen I, Rørvik J, Holmedal SH, Hykkerud DL, Fougner KJ, Svartberg J, Husebye ES, Løvas K. High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21- hydroxylase deficiency. Clin Endocrinol (Oxf). 2011;75(6):753–759.
Muthusamy K, Elamin MB, Smushkin G, Murad MH, Lampropulos JF, Elamin KB, Abu Elnour NO, Gallegos-Orozco JF, Fatourechi MM, Agrwal N, Lane MA, Albuquerque FN, Erwin PJ, Montori VM. Clinical review: adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis. J Clin Endocrinol Metab. 2010;95(9):4161–4172.
Frisch H, Battelino T, Schober E, Baumgartner-Parzer S, Nowotny P, Vierhapper H. Salt wasting in simple virilizing congenital adrenal hyperplasia. J Pediatr Endocrinol Metab. 2001;14(9):1649–1655.
Punthakee Z, Legault L, Polychronakos C. Prednisolone in the treatment of adrenal insufficiency: a re-evaluation of relative potency. J Pediatr. 2003;143(3):402–405.
Rivkees SA, Crawford JD. Dexamethasone treatment of virilizing congenital adrenal hyperplasia: the ability to achieve normal growth. Pediatrics. 2000;106(4):767–773.
Sarafoglou K, Gonzalez-Bolanos MT, Zimmerman CL, Boonstra T, Yaw Addo O, Brundage R. Comparison of cortisol exposures and pharmacodynamic adrenal steroid responses to hydrocortisone suspension vs. commercial tablets. J Clin Pharmacol. 2015; 55(4):452–457.
German A, Suraiya S, Tenenbaum-Rakover Y, Koren I, Pillar G, Hochberg Z. Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy. J Clin Endocrinol Metab. 2008;93(12): 4707–4710
Bonfig W, Pozza SB, Schmidt H, Pagel P, Knorr D, Schwarz HP. Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation. J Clin Endocrinol Metab. 2009;94(10):3882–3888.
Grigorescu-Sido A, Bettendorf M, Schulze E, Duncea I, Heinrich U. Growth analysis in patients with 21-hydroxylase deficiency influence of glucocorticoid dosage, age at diagnosis, phenotype and genotype on growth and height outcome. Horm Res. 2003; 60(2):84–90.
Van der Kamp HJ, Otten BJ, Buitenweg N, De Muinck Keizer-Schrama SMPF, Oostdijk W, Jansen M, Delemarre-de Waal HA, Vulsma T, Wit JM. Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients. Arch Dis Child. 2002; 87(2):139–144.
Arlt W, Willis DS, Wild SH, Krone N, Doherty EJ, Hahner S, Han TS, Carroll PV, Conway GS, Rees DA, Stimson RH, Walker BR, Connell JM, Ross RJ; United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE). Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab. 2010;95(11):5110–5121.
Finkielstain GP, Kim MS, Sinaii N, Nishitani M, Van Ryzin C, Hill SC, Reynolds JC, Hanna RM, Merke DP. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012;97(12):4429–4438.
Martin KA, Anderson RR, Chang RJ, Ehrmann DA, Lobo RA, Murad MH, Pugeat MM, Rosenfield RL. Evaluation and treatment of hirsutism in premenopausal women: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018;103(4): 1233– 1257.
El-Maouche D, Hargreaves CJ, Sinaii N, Mallappa A, Veeraraghavan P, Merke DP. Longitudinal assessment of illnesses, stress dosing and illness sequelae in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2018; 103(6):2336–2345.
Taylor LK, Auchus RJ, Baskin LS, Miller WL. Cortisol response to operative stress with anesthesia in healthy children. J Clin Endocrinol Metab. 2013;98(9):3687–3693.
Reisch N, Willige M, Kohn D, Schwarz HP, Allolio B, Reincke M, Quinkler M, Hahner S, Beuschlein F. Frequency and causes of adrenal crises over lifetime in patients with 21- hydroxylase deficiency. Eur J Endocrinol. 2012;167(1):35–42.
Weise M, Drinkard B, Mehlinger SL, Holzer SM, Eisenhofer G, Charmandari E, Chrousos GP, Merke DP. Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise. J Clin Endocrinol Metab. 2004;89(8):3679–3684.
Bornstein SR, Allolio B, Arlt W, Barthel A, Don-Wauchope A, Hammer GD, Husebye ES, Merke DP, Murad MH, Stratakis CA, Torpy DJ. Diagnosis and treatment of primary adrenal insufficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2016;101(2):364–389.
Falhammar H, Nordenström A. Nonclassic congenital adrenal hyperplasia due to 21- hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome. Endocrine. 2015; 50(1):32–50.
Trapp CM, Oberfield SE. Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update. Steroids. 2012;77(4):342–346.
Spritzer P, Billaud L, Thalabard J-C, Birman P, Mowszowicz I, Raux-Demay M-C, Clair F, Kuttenn F, Mauvais-Jarvis P. Cyproterone acetate versus hydrocortisone treatment in late- onset adrenal hyperplasia. J Clin Endocrinol Metab. 1990;70(3): 642–646.
Matthews D, Cheetham T. What is the best approach to the teenage patient presenting with nonclassical congenital adrenal hyperplasia: should we always treat with glucocorticoids? Clin Endocrinol (Oxf). 2013;78(3):338–341.
Moran C, Azziz R, Weintrob N, Witchel SF, Rohmer V, Dewailly D, Marcondes JAM, Pugeat M, Speiser PW, Pignatelli D, Mendonca BB, Bachega TAS, Escobar-Morreale HF, Carmina E, Fruzzetti F, Kelestimur F. Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. J Clin Endocrinol Metab. 2006;91(9):3451–3456.
Bidet M, Bellanné-Chantelot C, Galand-Portier M-B, Golmard J-L, Tardy V, Morel Y, Clauin S, Coussieu C, Boudou P, Mowzowicz I, Bachelot A, Touraine P, Kuttenn F. Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2010;95(3): 1182–1190.
Nandagopal R, Sinaii N, Avila NA, Van Ryzin C, Chen W, Finkielstain GP, Mehta SP, McDonnell NB, Merke DP. Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families. Eur J Endocrinol. 2011;164(6):977– 984.
Stoupa A, Gonz´ alez-Brice~no L, Pinto G, Samara-Boustani D, Thalassinos C, Flechtner I, Beltrand J, Bidet M, Simon A, Piketty M, Laborde K, Morel Y, Bellann´e-Chantelot C, Touraine P, Polak M. Inadequate cortisol response to the tetracosactide (Synacthen ®) test in non- classic congenital adrenal hyperplasia: an exception to the rule? Horm Res Paediatr. 2015;83(4):262–267.
Соболева Е.Л., Осиновская Н.С., Ткаченко Н.Н., Баранов В.С., Тарасова М.А. Восстановление фертильности у больных с неклассической формой врожденной гиперплазии коры надпочечников вследствие дефицита 21-гидроксилазы. Проблемы Эндокринологии. 2018;64(2):79-84)
.
Nimkarn S1, New MISteroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab. 2008 Apr;19(3):96-9.
Bulsari K1, Falhammar H Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Endocrine. 2017 Jan;55(1):19-36.
Migeon CJ Over 50 years of progress in the treatment of the hypertensive form of congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency. Commentary on Simm PJ and Zacharin MR: Successful pregnancy in a patient with severe 11-beta- hydroxylase deficiency and novel mutations in CYP11B1 gene (Horm Res 2007;68:294-297). Horm Res. 2007;68(6):298-9. Epub 2007 Aug 27.
Lesma A, Bocciardi A, Corti S, Chiumello G, Rigatti P, MontorsiF. Sexual function in adult life following Passerini-Glazel feminizing genitoplasty in patients with congenital adrenal hyperplasia. J Urol. 2014;191(1):206–211.
Houben CH, Tsui SY, Mou JW, Chan KW, Tam YH, Lee KH. Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital. Hong Kong Med J. 2014;20(6): 481–485.
Yankovic F, Cherian A, Steven L, Mathur A, Cuckow P. Current practice in feminizing surgery for congenital adrenal hyperplasia; a specialist survey. J Pediatr Urol. 2013;9(6 Pt B):1103–1107.
Van der Zwan YG, Janssen EH, Callens N, Wolffenbuttel KP, Cohen-Kettenis PT, van den Berg M, Drop SL, Dessens AB, Beerendonk C; Dutch Study Group on DSD. Severity of virilization is associated with cosmetic appearance and sexual function in women with congenital adrenal hyperplasia: a cross-sectional study. J Sex Med. 2013;10(3):866–875.
Binet A, Lardy H, Geslin D, Francois-Fiquet C, Poli-Merol ML. Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and ХX karyotype? J Pediatr Surg. 2016;51(3):465–468.
Salle JL, Lorenzo AJ, Jesus LE, Leslie B, AlSaid A, Macedo FN, Jayanthi VR, de Castro R. Surgical treatment of high urogenital sinuses using the anterior sagittal transrectal approach: a useful strategy to optimize exposure and outcomes. J Urol. 2012;187(3): 1024– 1031.
Van Wyk JJ, Ritzen EM. The role of bilateral adrenalectomy in the treatment of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2003;88(7):2993–2998.
Ogilvie CM, RumsbyG, Kurzawinski T, Conway GS. Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit’s experience. Eur J Endocrinol. 2006;154(3):405– 408.
Tiosano D, Vlodavsky E, Filmar S, Weiner Z, Goldsher D, Bar-Shalom R. Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomy. Horm Res Paediatr. 2010;74(3): 223–228.
Crocker MK, Barak S, Millo CM, Beall SA, Niyyati M, Chang R, Avila NA, Van Ryzin C, Segars J, Quezado M, Merke DP. Use of PET/CT with cosyntropin stimulation to identify and localize adrenal rest tissue following adrenalectomy in a woman withcongenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012; 97(11):E2084–E2089.
Tardy-Guidollet V, Menassa R, Costa J-M, David M, Bouvattier-Morel C, Baumann C, Houang M, Lorenzini F, Philip N, Odent S, Guichet A, Morel Y. New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002–2011). J Clin Endocrinol Metab. 2014;99(4):1180–1188.
Eunice M, Ammini AC. Prenatal treatment of mothers with fetuses at risk for congenital adrenal hyperplasia: how relevant is it to Indian context? Indian J Endocrinol Metab. 2013;17(3):373–375.
New MI, Tong YK, Yuen T, Jiang P, Pina C, Chan KC, Khattab A, Liao GJ, Yau M, Kim SM, Chiu RW, Sun L, Zaidi M, Lo YM. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab. 2014;99(6):E1022–E1030.
Mercê Fernȃndez-Balsells M, Muthusamy K, Smushkin G, Lampropulos JF, Elamin MB, Abu Elnour NO, Elamin KB, Agrwal N, Gallegos-Orozco JF, Lane MA, Erwin PJ, Montori VM,Murad MH. 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. Clin Endocrinol (Oxf). 2010;73(4):436– 444.
Miller WL, Witchel SF. Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits. Am J Obstet Gynecol. 2013; 208(5):354–359.
Murphy KE, Hannah ME, Willan AR, Hewson SA, Ohlsson A, Kelly EN, Matthews SG, Saigal S, Asztalos E, Ross S, Delisle M-F, Amankwah K, Guselle P, Gafni A, Lee SK, Armson BA; MACS Collaborative Group. Multiple courses of antenatal corticosteroids for preterm birth (MACS): a randomised controlled trial. Lancet. 2008;372(9656):2143–2151.
Hirvikoski T, Nordenstro¨m A, Lindholm T, Lindblad F, Ritze´n EM, Lajic S. Long-term follow-up of prenatally treated children at risk for congenital adrenal hyperplasia: does cause behavioural problems? Eur J Endocrinol. 2008;159(3): 309–316.
Hirvikoski T, Nordenström A, Wedell A, Ritzén M, Lajic S. Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint. J Clin Endocrinol Metab. 2012;97(6):1881–1883.
Dörr HG, BinderG, ReischN, GembruchU, Oppelt PG, Wieacker P, Kratzsch J. Experts’ opinion on the prenatal therapy of congenital adrenal hyperplasia (CAH) due to 21- hydroxylase deficiency—guideline of DGKED in cooperation with DGGG (S1-level, AWMF registry no. 174/013, July 2015). Geburtshilfe Frauenheilkd. 2015;75(12):1232–1238.
Simpson JL, Rechitsky S. Preimplantation diagnosis and other modern methods for prenatal diagnosis. J Steroid Biochem Mol Biol. 2017;165(Pt A):124–130.
Meyer-Bahlburg HFL. Psychoendocrinology of congenital adrenal hyperplasia. In: New MI, Lekarev O, Parsa A, Yuen TT, O’Malley BW, Hammer GD, eds. Genetic Steroid Disorders. San Diego, CA: Academic Press; 2014:285–300.
Al-Maghribi H. Congenital adrenal hyperplasia: problems with developmental anomalies of the external genitalia and sex assignment. Saudi J Kidney Dis Transpl. 2007;18(3):405–413.
Chowdhury TK, Laila K, Hutson JM, Banu T. Male gender identity in children with 46,XX DSD with congenital adrenal hyperplasia after delayed presentation in mid-childhood. J Pediatr Surg. 2015;50(12):2060–2062.
Meyer-Bahlburg HFL. Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development. Child Adolesc Psychiatr Clin N Am. 2011;20(4): 639–649.
Lee PA, Houk CP, Husmann DA. Should male gender assignment be considered in the markedly virilized patient With 46,XX and congenital adrenal hyperplasia? J Urol. 2010;184(4 Suppl): 1786–1792.
Meyer-Bahlburg HFL, Dolezal C, Baker SW, Ehrhardt AA, New MI. Gender development in women with congenital adrenal hyperplasia as a function of disorder severity. Arch Sex Behav. 2006;35(6):667–684.
Hines M, Constantinescu M, Spencer D. Early androgen exposure and human gender development. Biol Sex Differ. 2015;6(1):3.
Meyer-Bahlburg HFL, Baratz Dalke K, Berenbaum SA, Cohen-Kettenis PT, Hines M, Schober JM. Gender assignment, reassignment and outcome in disorders of sex development: update of the 2005 consensus conference. Horm Res Paediatr. 2016;85(2): 112–118.
Hines M, Pasterski V, Spencer D, Neufeld S, Patalay P, Hindmarsh PC, Hughes IA, Acerini CL. Prenatal androgen exposure alters girls’ responses to information indicating genderappropriate behaviour. Philos Trans R Soc Lond B Biol Sci. 2016; 371(1688):20150125.
Endendijk JJ, Beltz AM, McHale SM, Bryk K, Berenbaum SA. Linking prenatal androgens to gender-related attitudes, identity, and activities: evidence from girls with congenital adrenal hyperplasia. Arch Sex Behav. 2016;45(7):1807–1815.
Pasterski V, Zucker KJ, Hindmarsh PC, Hughes IA, Acerini C, Spencer D, Neufeld S, Hines M. Increased cross-gender identification independent of gender role behavior in girls with congenital adrenal hyperplasia: results from a standardized assessment of 4- to 11-year-old children. Arch Sex Behav. 2015;44(5):1363–1375.
Dessens AB, Slijper FM, Drop SL. Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav. 2005;34(4):389–397.
Meyer-Bahlburg HFL. Gender assignment and reassignment in intersexuality: controversies, data, and guidelines for research. Adv Exp Med Biol. 2002;511:199–223.
Liao L-M, Wood D, Creighton SM. Parental choice on normalizing cosmetic genital surgery. BMJ. 2015;351:5124.
Tamar-Mattis A. Patient advocate responds to DSD surgery debate. J Pediatr Urol. 2014;10(4):788–789.
Sytsma SE. Ethics and Intersex. Dordrecht, Netherlands: Springer Netherlands, 2006.
Feder EK, Dreger A. Still ignoring human rights in intersex care. J Pediatr Urol. 2016;12(6):436–437.
Dreger AD. Intersex and human rights: the long view. In: Sytsma SE, ed. Ethics and Intersex. Dordrecht, Netherlands: Springer; 2006:73–86.
Diamond M, Beh H.G. The right to be wrong: sex and gender decisions. In: Sytsma SE, ed. Ethics and Intersex. Dordrecht, Netherlands: Springer; 2006:103–114.
Creighton SM. Adult outcomes of feminizing surgery. In: Sytsma SE, ed. Ethics and Intersex. Dordrecht, Netherlands: Springer; 2006:207–214.
Diamond M, Sigmundson HK. Management of intersexuality. Guidelines for dealing with persons with ambiguous genitalia.Arch Pediatr Adolesc Med. 1997;151(10):1046–1050.
Wisniewski AB, Migeon CJ, Malouf MA, Gearhart JP. Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Urol. 2004;171(6 Pt1):2497–2501.
Fagerholm R, Santtila P, Miettinen PJ, Mattila A, Rintala R, Taskinen S. Sexual function and attitudes toward surgery after feminizing genitoplasty. J Urol. 2011;185(5):1900–1904.
Zhang H, Pan J, Ji H, Wang Y, Shen W, Liu L, Lu G, Zhou Z. Long-term evaluation of patients undergoing genitoplasty due to disorders of sex development: results from a 14- year follow-up. Sci World J. 2013;2013:298015.
Dayner JE, Lee PA, Houk CP. Medical treatment of intersex: parental perspectives. J Urol. 2004;172(4 pt 2):1762–1765.
Lundberg T, Lindström A, Roen K, Hegarty P. From knowing nothing to knowing what, how and now: parents’ experiences of caring for their children with congenital adrenal hyperplasia. J Pediatr Psychol. 2017;42(5):520–529.
Reisch N, Hahner S, Bleicken B, Flade L, Pedrosa Gil F, Loeffler M, Ventz M, Hinz A, Beuschlein F, Allolio B, Reincke M, Quinkler M. Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency. Clin Endocrinol (Oxf). 2011;74(2):166–173.
King TF, Lee MC, Williamson EE, Conway GS. Experience in optimizing fertility outcomes in men with congenital adrenal hyperplasia due to 21 hydroxylase deficiency. Clin Endocrinol (Oxf). 2016;84(6):830–836.
Casterȃs 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(6):833–837.
Debono M, Mallappa A, Gounden V, Nella AA, Harrison RF, Crutchfield CA, Backlund PS, Soldin SJ, Ross RJ, Merke DP. Hormonal circadian rhythms in patients with congenital adrenal hyperplasia: identifying optimal monitoring times and novel disease biomarkers. Eur J Endocrinol. 2015;173(6): 727–737. 144 Tamhane SU, Rodriguez-GutierrezR, IqbalAM, Prokop L, Bancos I, Speiser PW, MuradMH. Cardiovascular andmetabolic outcomes in congenital adrenal hyperplasia: a systematic review and metaanalysis. J Clin Endocrinol Metab. 2018;103(11):4097–4103.
Völkl TMK, Simm D, Körner A, RascherW, KiessW, Kratzsch J, Dörr HG. Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency? Eur J Endocrinol. 2009;160(2):239– 247.
Völkl TM, Simm D, Beier C, Dörr HG. Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 2006;117(1):e98–e105.
Cornean RE, Hindmarsh PC, Brook CG. Obesity in 21-hydroxylase deficient patients. Arch Dis Child. 1998;78(3):261–263.
Сазонова А.И., Трошина Е.А., Молашенко Н.В. Метаболические нарушения у взрослых пациентов с врожденной дисфункцией коры надпочеников Проблемы эндокринологии. 2012. Т58. №5. С. 3-9.
Falhammar H, Filipsson H, Holmdahl G, Janson P-O, Nordenskjöld A, Hagenfeldt K, Thorén M. Fractures and bone mineral density in adult women with 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2007;92(12):4643–4649.
Ceccato F, Barbot M, Albiger N, Zilio M, De Toni P, Luisetto G, Zaninotto M, Greggio NA, Boscaro M, Scaroni C, Camozzi V. Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol. 2016;175(2):101–106.
Chakhtoura Z, Bachelot A, Samara-Boustani D, Ruiz JC, Donadille B, Dulon J, Christin- Maˆıtre S, Bouvattier C, Raux-Demay MC, Bouchard P, Carel JC, Leger J, Kuttenn F, Polak M, Touraine P; Centre des Maladies Endocriniennes Rares de la Croissance and Association Surr ´enales. Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency. Eur J Endocrinol. 2008; 158(6):879–887.
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.
Сазонова А.И., Молашенко Н.В., Трошина Е.А. Влияние глюкокортикоидной терапии врожденной дисфункции коры надпочечников у взрослых пациентов на снижение минеральной костной плотности. Остеопороз и остеопатии.2014. Т.16. №4. С 63-67.
Barzon L, Sonino N, Fallo F, Palu G, Boscaro M Prevalence and natural history of adrenal incidentalomas. Eur J Endocrinol. 2003.149:273–285.
Varan A, Unal S, Ruacan S, Vidinlisan S Adrenocortical carcinoma associated with adrenogenital syndrome in a child. Med Pediatr Oncol. 2000. 35:88–90.
Jaresch S, Kornely E, Kley HK, Schlaghecke R. Adrenal incidentaloma and patients with homozygous or heterozygous congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1992;74(3): 685–689.
Barzon L, Maffei P, Sonino N, Pilon C, Baldazzi L, Balsamo A, Del Maschio O, Masi G, Trevisan M, Pacenti M, Fallo F. The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience. J Endocrinol Invest. 2007;30(7):615–623.
Falhammar H, Frisên L, Norrby C, Almqvist C, Hirschberg AL, Nordenskjöld A, Nordenström A. Reduced frequency of biological and increased frequency of adopted children in males with 21-hydroxylase deficiency: a Swedish population-based national cohort study. J Clin Endocrinol Metab. 2017;102(11): 4191–4199.
Kavoussi PK, Summers-Colquitt RB, Odenwald KC, Kressin M, Kavoussi KM, Pool TB, Kavoussi SK. Sperm retrieval and concomitant tumor resection in azoospermic men with congenital adrenal hyperplasia and bilateral testicular adrenal rest tumors: a case report. J Assist Reprod Genet. 2016;33(4):545–548.
Сазонова А.И., Молашенко Н.В., Трошина Е.А. Состояние репродуктивной функции и критерии компенсации у взрослых пациентв с классическими формами врожденной дисфункции коры надпочеников Consilium Medicum 2014.Т.16. №4. С63-67.
Adamantios M. Mellis, Blake W. Palmer, Amy B. Wisniewski, Gennady Slobodov. Ovarian adrenal rest tumour in a patient with chronically untreated congenital adrenal hyperplasia (CAH) BJU International Journai 27 Jul 2011, DOI: 10.1002/BJUIw-2011-041-web
Chew KT, Abu MA, Arifuddin Y, Mohamed Ismail NA, Nasir NAM, Mohammed F, Nur Azurah AG Ectopic adrenal tissue associated with borderline mucinous cystadenoma of ovary: a case report with review of the literature. Horm Mol Biol Clin Investig. 2017 Sep 20;32(3), статья № 20170021.
Tiosano D, Vlodavsky E, Filmar S, Weiner Z, Goldsher D, Bar-Shalom R. Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomy. Horm Res Paediatr. 2010;74(3):223-8.
Stikkelbroeck NM, Hermus AR, Schouten D, Suliman HM, Jager GJ, Braat DD, Otten BJ. Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging. Eur Radiol. 2004 Oct;14(10):1802-6.
Zaarour MG, Atallah DM, Trak-Smayra VE, Halaby GH Bilateral ovary adrenal rest tumor in a congenital adrenal hyperplasia following adrenalectomy. Endocr.Pract 2014 Apr;20(4):69-74.
Bulsari K., Falhammar H. 11β-Hydroxylase deficiency book chapter (2018) Encyclopedia of Endocrine Diseases, pp. 421-430.
Bulsari K., Falhammar H. Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency (2017) Endocrine, 55 (1), pp. 19-36.
Lurbe, E., Cifkova, R., Cruickshank, J.K., Dillon, M.J., Ferreira, I., Invitti, C., Kuznetsova, T., Laurent, S., Mancia, G., Morales-Olivas, F., Rascher, W., Redon, J., Schaefer, F., Seeman, T., Stergiou, G., Wühl, E., Zanchetti, A. Management of high blood pressure in children and adolescents: Recommendations of the European Society of hypertension (2010) Anales de Pediatria, 73 (1), pp. 51.e1-51.e28/
Zacharieva, S., Robeva, R., Andonova, S., Vazharova, R., Balabanski, L., Atanasoska, M., Toncheva, D., Elenkova, A., Savov, A. Long-term follow-up of a female patient with non- classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1 (2019) Gynecological Endocrinology, 35 (1), pp. 23-27.
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.
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.
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.
Moyer VA; U.S. Preventive Services Task Force. Screening for gestational diabetes mellitus: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2014;160(6): 414–420.
Falhammar H, Filipsson H, Holmdahl G, Janson PO, Nordenskjo¨ ld A, Hagenfeldt K, Thore´nM. Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2007;92(1):110–116.
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.
Eyal O, Ayalon-Dangur I, Segev-Becker A, Schachter-Davidov A,Israel S, Weintrob N. Pregnancy in women with nonclassic congenital adrenal hyperplasia: time to conceive and outcome. Clin Endocrinol (Oxf). 2017;87(5):552–556.
Carmina E. et al. 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. – Т. 23. – №. 5. – С. 580-599.
Flint J. L., Jacobson J. D. Adrenal hypoplasia congenita presenting as congenital adrenal hyperplasia //Case reports in endocrinology. – 2013. – Т. 2013.
Для продолжения работы требуется
Регистрация
Предыдущая страница
Следующая страница
Оглавление
Список сокращений
Термины и определения
Врожденная дисфункция коры надпочечников (адреногенитальный синдром)
+
Список литературы
Приложение А1. Состав рабочей группы по разработке и пересмотру клинических рекомендаций
Приложение А2. Методология разработки клинических рекомендаций
Приложение Б. Алгоритмы действий врача
Приложение В. Информация для пациента
Приложение Г1-ГN. Шкалы оценки, вопросники и другие оценочные инструменты состояния пациента, приведенные в клинических рекомендациях
Данный блок поддерживает скрол*