Newborn Screening for Congenital Adrenal Hyperplasia
2003; Elsevier BV; Volume: 32; Issue: 8 Linguagem: Inglês
10.3928/0090-4481-20030801-09
ISSN1938-2359
Autores Tópico(s)Urological Disorders and Treatments
ResumoNewborn Screening for Congenital Adrenal Hyperplasia Songya Pang, MD, , MD Songya Pang, MD Pediatric Annals, 2013;32(8):516–523Published Online:August 01, 2003https://doi.org/10.3928/0090-4481-20030801-09Cited by:16View Full TextPDF ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinkedInRedditEmail SectionsMore1. Pang S, Hotchkiss J, Drash AL, Levine LS, New MJ. Microfilter paper method for 17hydroxy-progesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1977;45:1003-1008. Google Scholar2. Pang S, Murphey W, Levine LS, et al. A pilot newborn screening program for congenital adrenal hyperplasia in Alaska. J Clin Endocrinol Metab. 1982;55:413-420. Google Scholar3. Pang S, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21 -hydroxylase deficiency. Pediatrics. 1988;81:866-874. Google Scholar4. Pang S, Clark A. Congenital adrenal hyperplasia due to 21 -hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening. 1993;2 105-139. Google Scholar5. Suwa S. Nationwide survey of neonatal mass screening for congenital adrenal hyperplasia in Japan. Screening. 1994;3:141-151. Google Scholar6. Cutfield WS, Webster D. Newborn screening for congenital adrenal hyperplasia in New Zealand. / Pediatr. 1995; 1 26: 1 1 8- 1 2 1 . Google Scholar7. Al-Nuaim AA. Newborn screening program (NSP) in Saudi Arabia (SA). In: Programs and Abstracts of the 3rd International Newborn Screening Meeting. Jamaica Plain, Mass. New England Regional Newborn Screening Program; 1996:89. Google Scholar8. Balsamo A, Cacciari E, Piazzi S, et al. Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995. Pediatrics. 1996;98:362-367. Google Scholar9. Saedi SA, Dean H, Dent W, Stockl E, Cronin C. Screening for congenital adrenal hyperplasia: the Delfia Screening Test overestimates serum 17-hydroxyprogesterone in preterm infants. Pediatrics. 1996;97:100-102. Google Scholar10. Allen DB, Hoffman GL, Mahy SA, et al. Improved precision of newborn screening for congenital adrenal hyperplasia using weightadjusted criteria for 17-hydroxyprogesterone in preterm infants. J Pediatrics. 1997; 130: 128-138. Google Scholar11. Pang S, Shook MK. Current status of neonatal screening for congenital adrenal hyperplasia. Current Opinion in Pediatr. 1997;9: 419-423. Google Scholar12. Thilen A, Nordenstrom A, Hagenfeldt L, et al. Benefits of neonatal screening for congenital adrenal hyperplasia (21 -hydroxylase deficiency) in Sweden. Pediatrics. 1998;101:1-5. Google Scholar13. Therrell BL Jr, Berenbaum SA, ManterKapanke V, et al. Results of screening 1.9 million Texas newborns for 21 -hydroxy lasedeficient congenital adrenal hyperplasia. Pediatrics. 1998; 101 :583-590. Google Scholar14. Honour JW, Torresani T. Evaluation of neonatal screening for congenital adrenal hyperplasia. Horm Res. 2001;55:206-211. Google Scholar15. Pang S. Congenital Adrenal Hyperplasia. Endocrinol Metab Clinics of N Amer. 1997;26:853-891. Google Scholar16. White PC, Speiser PW. Congenital Adrenal Hyperplasia due to 21 -hydroxylase deficiency. Endocrine Rev. 2000;21:245-291. Google Scholar17. Kovacs J, Votava F, Heinze G, et al. Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. J Clin Endocrinol Metab. 2000;86:2958-2964. Google Scholar18. Donaldson MD, Thomas PH, Love JG, et al. Presentation, acute illness, and learning difficulties in salt wasting 21 -hydroxylase deficiency. Arch Dis Child. 1994;70:214-218. Google Scholar19. Pang S, et al. International Consortium Study on Newborn Screening for Congenital Adrenal Hyperplasia: Investigation Update on Newborn Screening for Congenital Adrenal Hyperplasia in a Greater Worldwide Population. Paper presented at: International Newbom Screening Society Meeting; October 2124, 1996; Boston, Mass. Google Scholar20. Lai CC, Tsai CH, Tsai FJ, et al. Monitoring of congenital adrenal hyperplasia by microbore HPLC-electrospray ionization tandem mass spectrometry of dried blood spots. Clin Chem. 2002;48:354-356. Google Scholar21. Nordenstrom A, Thilen A, Hagenfeldt L, Larsson A, Wedell A. Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21 -hydroxylase deficiency. J Clin Endocrinol Metab. 1999;84:1505-1509. Google Scholar22. Joint LWPES/ESPE CAH Working Group, Writing Committee. Consensus Statement on 21 -hydroxylase Deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology. J Clin Endocrinol Metab. 2002;87: 4048-4053. Google Scholar23. Van der Kamp HJ, Noordam K, Elvers B, et al. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics. 2001;108:1320-1324. Google Scholar24. Brosnan CA, Brosnan P, Therrell BL, et al. A comparative cost analysis of newborn screening for classic congenital adrenal hyperplasia in Texas. PuWi'c Health Rep. 1997;113:170-178. Google Scholar25. Merke DP, Keil MF, Jones JV, Fields J, Hill S, Cutler GB Jr: Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growtii velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2000;85:1114-1120. Google Scholar26. Jäskeläinen, Voutilainen R. Long-term outcome of classical 21 -hydroxylase deficiency: diagnosis, complications and quality of life. Acta Paediatr. 2000;89:183-187. Google Scholar27. Pang S, Levine LS, Cederqvist L, et al. Amniotic fluid concentrations of ?5 and ?4 steroid in fetuses with congenital adrenal hyperplasia due to 21 -hydroxylase deficiency and in anencephalic fetuses. / Clin Endocrinol Metab. 1980;51:223-229. Google Scholar Previous article Next article FiguresReferencesRelatedDetailsCited by Garofalo E and Garvin H (2020) The confusion between biological sex and gender and potential implications of misinterpretations Sex Estimation of the Human Skeleton, 10.1016/B978-0-12-815767-1.00004-3, (35-52), . Dahl S, Nermoen I, Brønstad I, Husebye E, Løvås K and Thorsby P Assay of steroids by liquid chromatography–tandem mass spectrometry in monitoring 21-hydroxylase deficiency, Endocrine Connections, 10.1530/EC-18-0453, 7:12, (1542-1550) Nermoen I, Husebye E, Myhre A and Løvås K Klassisk medfødt binyrebarkhyperplasi, Tidsskrift for Den norske legeforening, 10.4045/tidsskr.16.0376, 137:7, (540-543) Kishore Kumar R, Das H and Kini P (2015) Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?, The Journal of Obstetrics and Gynecology of India, 10.1007/s13224-015-0712-y, 66:6, (415-419), Online publication date: 1-Dec-2016. Dörr H, Odenwald B and Nennstiel-Ratzel U (2015) Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening, International Journal of Neonatal Screening, 10.3390/ijns1010036, 1:1, (36-44) Ryckman K, Berberich S, Shchelochkov O, Cook D and Murray J (2013) Clinical and environmental influences on metabolic biomarkers collected for newborn screening, Clinical Biochemistry, 10.1016/j.clinbiochem.2012.09.013, 46:1-2, (133-138), Online publication date: 1-Jan-2013. Quintos J (2012) Common Endocrine Problems in Neonatology Textbook of Clinical Pediatrics, 10.1007/978-3-642-02202-9_28, (341-345), . Nermoen I, Rørvik J, Holmedal S, Hykkerud D, Fougner K, Svartberg J, Husebye E and Løvås K (2011) High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency, Clinical Endocrinology, 10.1111/j.1365-2265.2011.04151.x, 75:6, (753-759), Online publication date: 1-Dec-2011. Nermoen I, Husebye E, Svartberg J and Løvås K Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway, European Journal of Endocrinology, 10.1530/EJE-10-0284, 163:3, (453-459) Speiser P (2010) Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia Genetic Disorders and the Fetus, 10.1002/9781444314342.ch18, (600-613) Speiser P (2008) Nonclassic adrenal hyperplasia, Reviews in Endocrine and Metabolic Disorders, 10.1007/s11154-008-9097-x, 10:1, (77-82), Online publication date: 1-Mar-2009. Sørensen K, Andersen P, Larsen L, Schwartz M, Schouten J and Nygren A (2008) Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA Material, Analytical Chemistry, 10.1021/ac801688c, 80:23, (9363-9368), Online publication date: 1-Dec-2008. Gleeson H, Wiley V, Wilcken B, Elliott E, Cowell C, Thonsett M, Byrne G and Ambler G (2008) Two-year pilot study of newborn screening for congenital adrenal hyperlasia in New South Wales compared with nationwide case surveillance in Australia, Journal of Paediatrics and Child Health, 10.1111/j.1440-1754.2008.01383.x, 44:10, (554-559), Online publication date: 1-Oct-2008. Varness T, Allen D and Hoffman G (2005) Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls, The Journal of Pediatrics, 10.1016/j.jpeds.2005.04.035, 147:4, (493-498), Online publication date: 1-Oct-2005. van der Kamp H, Oudshoorn C, Elvers B, van Baarle M, Otten B, Wit J and Verkerk P (2005) Cutoff Levels of 17-α-Hydroxyprogesterone in Neonatal Screening for Congenital Adrenal Hyperplasia Should Be Based on Gestational Age Rather Than on Birth Weight, The Journal of Clinical Endocrinology & Metabolism, 10.1210/jc.2004-2136, 90:7, (3904-3907), Online publication date: 1-Jul-2005. Speiser P (2005) The Genetics of Steroid 21-Hydroxylase Deficiency, The Endocrinologist, 10.1097/01.ten.0000152721.30198.08, 15:1, (37-43), Online publication date: 1-Jan-2005. Request Permissions InformationCopyright 2013, SLACK IncorporatedPDF download • 13.6 MB
Referência(s)