메뉴 건너뛰기




Volumn 38, Issue 4, 2009, Pages 827-837

Update: Newborn Screening for Endocrinopathies

Author keywords

Congenital adrenal hyperplasia; Congenital hypothyroidism; Dried blood specimen; Newborn screening

Indexed keywords

CORTICOSTEROID; GLUCOCORTICOID; GONADORELIN AGONIST; GROWTH HORMONE; LEVOTHYROXINE; METFORMIN; MINERALOCORTICOID;

EID: 70449788009     PISSN: 08898529     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ecl.2009.08.005     Document Type: Review
Times cited : (18)

References (73)
  • 1
    • 33744784588 scopus 로고    scopus 로고
    • Newborn screening: toward a uniform screening panel and system-executive summary
    • Watson M., Mann M., Lloyd-Puryear M., et al. Newborn screening: toward a uniform screening panel and system-executive summary. Pediatrics 117 5 (2006) S296-S307
    • (2006) Pediatrics , vol.117 , Issue.5
    • Watson, M.1    Mann, M.2    Lloyd-Puryear, M.3
  • 2
    • 0018114780 scopus 로고
    • Thyroglobulin concentration in neonatal blood: a possible test for neonatal hypothyroidism
    • Osotimehin M., Black E., and Hoffenbert R. Thyroglobulin concentration in neonatal blood: a possible test for neonatal hypothyroidism. Br Med J 2 (1978) 1467-1468
    • (1978) Br Med J , vol.2 , pp. 1467-1468
    • Osotimehin, M.1    Black, E.2    Hoffenbert, R.3
  • 3
    • 0033863697 scopus 로고    scopus 로고
    • Usefulness of thyroxine and free thyroxine filter paper measurements in neonatal screening for paper measurements in neonatal screening for congenital hypothyroidism of preterm babies
    • Gruneiro-Papendieck L., Prieto L., Chiese A., et al. Usefulness of thyroxine and free thyroxine filter paper measurements in neonatal screening for paper measurements in neonatal screening for congenital hypothyroidism of preterm babies. J Med Screen 7 (2000) 78-81
    • (2000) J Med Screen , vol.7 , pp. 78-81
    • Gruneiro-Papendieck, L.1    Prieto, L.2    Chiese, A.3
  • 4
    • 0018390505 scopus 로고
    • Screening for congenital hypothyroidism: results of screening 1 million North American infants
    • Fisher D., Dussault J., Foley T., et al. Screening for congenital hypothyroidism: results of screening 1 million North American infants. J Pediatr 94 5 (1979) 700-705
    • (1979) J Pediatr , vol.94 , Issue.5 , pp. 700-705
    • Fisher, D.1    Dussault, J.2    Foley, T.3
  • 5
    • 33646772555 scopus 로고    scopus 로고
    • Congenital hypothyroidism: from Paracelsus to molecular diagnosis
    • Djemli A., Van Vliet G., and Delvin E. Congenital hypothyroidism: from Paracelsus to molecular diagnosis. Clin Biochem 39 (2006) 511-518
    • (2006) Clin Biochem , vol.39 , pp. 511-518
    • Djemli, A.1    Van Vliet, G.2    Delvin, E.3
  • 6
    • 0033816504 scopus 로고    scopus 로고
    • Simultaneous measurement of thyroxine and thyrotropin from newborn dried blood-spot specimens using a multiplexed fluorescent microsphere immunoassay
    • Bellisario R., Colinas R., and Pass K. Simultaneous measurement of thyroxine and thyrotropin from newborn dried blood-spot specimens using a multiplexed fluorescent microsphere immunoassay. Clin Chem 46 9 (2000) 1422-1424
    • (2000) Clin Chem , vol.46 , Issue.9 , pp. 1422-1424
    • Bellisario, R.1    Colinas, R.2    Pass, K.3
  • 7
    • 0028939561 scopus 로고
    • Measurement of thyroglobulin in newborn screening specimens from normal and hypothyroid infants
    • Mitchell M., and Hermos R. Measurement of thyroglobulin in newborn screening specimens from normal and hypothyroid infants. Clin Endocrinol 42 (1995) 523-527
    • (1995) Clin Endocrinol , vol.42 , pp. 523-527
    • Mitchell, M.1    Hermos, R.2
  • 8
    • 33746906274 scopus 로고    scopus 로고
    • Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003
    • Jones J., Mackenzie J., Croft G., et al. Improvement in screening performance and diagnosis of congenital hypothyroidism in Scotland 1979-2003. Arch Dis Child 91 (2006) 680-685
    • (2006) Arch Dis Child , vol.91 , pp. 680-685
    • Jones, J.1    Mackenzie, J.2    Croft, G.3
  • 9
    • 33644649019 scopus 로고    scopus 로고
    • The high price of false positives
    • Howell R. The high price of false positives. Mol Genet Metab 87 (2006) 180-183
    • (2006) Mol Genet Metab , vol.87 , pp. 180-183
    • Howell, R.1
  • 10
    • 0033918898 scopus 로고    scopus 로고
    • The magnitude and challenge of false-positive newborn screening test results
    • Kwon C., and Farrell P. The magnitude and challenge of false-positive newborn screening test results. Arch Pediatr Adolesc Med 154 (2000) 714-718
    • (2000) Arch Pediatr Adolesc Med , vol.154 , pp. 714-718
    • Kwon, C.1    Farrell, P.2
  • 11
    • 47549118875 scopus 로고    scopus 로고
    • Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism
    • Polizzotti N., Carta A., Gelsomina R., et al. Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. J Clin Endocrinol Metab 93 (2008) 2679-2685
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 2679-2685
    • Polizzotti, N.1    Carta, A.2    Gelsomina, R.3
  • 12
    • 0029873487 scopus 로고    scopus 로고
    • Transient congenital hypothyroidism and hyperthyrotropinemina: normal thyroid function and physical development at the ages of 6-14 years
    • Kohler B., Schnabel D., Biebermann H., et al. Transient congenital hypothyroidism and hyperthyrotropinemina: normal thyroid function and physical development at the ages of 6-14 years. J Clin Endocrinol Metab 81 4 (1996) 1563-1567
    • (1996) J Clin Endocrinol Metab , vol.81 , Issue.4 , pp. 1563-1567
    • Kohler, B.1    Schnabel, D.2    Biebermann, H.3
  • 13
    • 33748667275 scopus 로고    scopus 로고
    • How reliable is newborn screening for congenital adrenal hyperplasia?
    • Pass K. How reliable is newborn screening for congenital adrenal hyperplasia?. Nat Clin Pract Endocrinol Metab 2 (2006) 74-75
    • (2006) Nat Clin Pract Endocrinol Metab , vol.2 , pp. 74-75
    • Pass, K.1
  • 14
    • 0022357720 scopus 로고
    • Screening for congenital hypothyroidism with specimen collection at two time periods: results of the Northwest Regional Screening Program
    • LaFranchi S., Hanna C., Krainz P., et al. Screening for congenital hypothyroidism with specimen collection at two time periods: results of the Northwest Regional Screening Program. Pediatrics 76 (1985) 734-740
    • (1985) Pediatrics , vol.76 , pp. 734-740
    • LaFranchi, S.1    Hanna, C.2    Krainz, P.3
  • 15
    • 34249338694 scopus 로고    scopus 로고
    • Increase in congenital hypothyroidism in New York State and in the United States
    • Harris K., and Pass K. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab 91 (2007) 268-277
    • (2007) Mol Genet Metab , vol.91 , pp. 268-277
    • Harris, K.1    Pass, K.2
  • 17
    • 0033988367 scopus 로고    scopus 로고
    • Recent advances in understanding the molecular basis of primary congenital hypothyroidism
    • Macchia P. Recent advances in understanding the molecular basis of primary congenital hypothyroidism. Mol Med Today 6 (2000) 36-42
    • (2000) Mol Med Today , vol.6 , pp. 36-42
    • Macchia, P.1
  • 18
    • 11144291415 scopus 로고    scopus 로고
    • Contribution of genetic factors to neonatal transient hypothyroidism
    • Niu D., Lin C., Hwang B., et al. Contribution of genetic factors to neonatal transient hypothyroidism. Arch Dis Child Fetal Neonatal Ed 90 (2005) F69-F72
    • (2005) Arch Dis Child Fetal Neonatal Ed , vol.90
    • Niu, D.1    Lin, C.2    Hwang, B.3
  • 19
    • 0036056296 scopus 로고    scopus 로고
    • Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system
    • De Deken X., Wang D., Dumont J.E., et al. Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system. Exp Cell Res 273 2 (2002) 187-196
    • (2002) Exp Cell Res , vol.273 , Issue.2 , pp. 187-196
    • De Deken, X.1    Wang, D.2    Dumont, J.E.3
  • 20
    • 13144253117 scopus 로고    scopus 로고
    • Neonatal screening by DNA microarray: spots and chips
    • Green N.S., and Pass K.A. Neonatal screening by DNA microarray: spots and chips. Nat Rev Genet 6 (2005) 147-151
    • (2005) Nat Rev Genet , vol.6 , pp. 147-151
    • Green, N.S.1    Pass, K.A.2
  • 21
    • 33745318070 scopus 로고    scopus 로고
    • Update of newborn screening and therapy for congenital hypothyroidism
    • Rose S., Brown R., Kaplowitz P., et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 117 (2006) 2290-2303
    • (2006) Pediatrics , vol.117 , pp. 2290-2303
    • Rose, S.1    Brown, R.2    Kaplowitz, P.3
  • 22
    • 0025952038 scopus 로고
    • A ten-year temporal analysis of primary congenital hypothyroidism in Israel
    • Kaiserman I., Siebner R., Kletter G., et al. A ten-year temporal analysis of primary congenital hypothyroidism in Israel. Early Hum Dev 26 3 (1991) 193-201
    • (1991) Early Hum Dev , vol.26 , Issue.3 , pp. 193-201
    • Kaiserman, I.1    Siebner, R.2    Kletter, G.3
  • 23
    • 0036403239 scopus 로고    scopus 로고
    • Dynamics of the plasma concentrations of TSH, FT4 and T3 following thyroxine supplementation in congenital hypothyroidism
    • Bakker B., Kempers M., DeVijlder J., et al. Dynamics of the plasma concentrations of TSH, FT4 and T3 following thyroxine supplementation in congenital hypothyroidism. Clin Endocrinol (Oxf) 57 (2002) 529-537
    • (2002) Clin Endocrinol (Oxf) , vol.57 , pp. 529-537
    • Bakker, B.1    Kempers, M.2    DeVijlder, J.3
  • 24
    • 33846068831 scopus 로고    scopus 로고
    • Disorders of the thyroid in the newborn and infant
    • Sperling M.A. (Ed), Saunders, Philadelphia
    • Fisher D. Disorders of the thyroid in the newborn and infant. In: Sperling M.A. (Ed). Clinical pediatric and adolescent endocrinology (2002), Saunders, Philadelphia 164
    • (2002) Clinical pediatric and adolescent endocrinology , pp. 164
    • Fisher, D.1
  • 25
    • 0034896532 scopus 로고    scopus 로고
    • Hypothyroxinemia in the preterm infant: the benefits and risks of thyroxine treatment
    • Rapaport R., Rose S., and Freemark M. Hypothyroxinemia in the preterm infant: the benefits and risks of thyroxine treatment. J Pediatr 139 (2001) 182-188
    • (2001) J Pediatr , vol.139 , pp. 182-188
    • Rapaport, R.1    Rose, S.2    Freemark, M.3
  • 26
    • 0345570512 scopus 로고    scopus 로고
    • Risk factors associated with delayed thyrotropin elevations in congenital hypothyroidism
    • Larson C., Hermos R., Delaney A., et al. Risk factors associated with delayed thyrotropin elevations in congenital hypothyroidism. J Pediatr 143 (2003) 587-591
    • (2003) J Pediatr , vol.143 , pp. 587-591
    • Larson, C.1    Hermos, R.2    Delaney, A.3
  • 28
    • 33644804268 scopus 로고    scopus 로고
    • Treatment and follow-up of children with transient congenital hypothyroidism
    • Yang R., Zhu Z., Zhou X., et al. Treatment and follow-up of children with transient congenital hypothyroidism. J Zhejiang Univ Sci B 6 12 (2005) 1206-1209
    • (2005) J Zhejiang Univ Sci B , vol.6 , Issue.12 , pp. 1206-1209
    • Yang, R.1    Zhu, Z.2    Zhou, X.3
  • 29
    • 1842579535 scopus 로고    scopus 로고
    • Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development
    • Evans C., Jordan N., Owens G., et al. Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. Eur J Endocrinol 150 (2004) 265-268
    • (2004) Eur J Endocrinol , vol.150 , pp. 265-268
    • Evans, C.1    Jordan, N.2    Owens, G.3
  • 30
    • 33847311698 scopus 로고    scopus 로고
    • Transient neonatal hypothyroidism is associated with elevated serum anti-thyroglobulin antibody levels in newborns and their mothers
    • Ordookhani A., Mirmiran P., Walfish P., et al. Transient neonatal hypothyroidism is associated with elevated serum anti-thyroglobulin antibody levels in newborns and their mothers. J Pediatr 3 (2007) 315-317
    • (2007) J Pediatr , vol.3 , pp. 315-317
    • Ordookhani, A.1    Mirmiran, P.2    Walfish, P.3
  • 31
    • 18444381152 scopus 로고    scopus 로고
    • Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia
    • Calaciura F., Motta R., Miscio G., et al. Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia. J Clin Endocrinol Metab 87 7 (2002) 3209-3214
    • (2002) J Clin Endocrinol Metab , vol.87 , Issue.7 , pp. 3209-3214
    • Calaciura, F.1    Motta, R.2    Miscio, G.3
  • 32
    • 0033912966 scopus 로고    scopus 로고
    • Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism
    • Bongers-Schokking J., Koot H., Wiersma D., et al. Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. J Pediatr 136 (2000) 292-297
    • (2000) J Pediatr , vol.136 , pp. 292-297
    • Bongers-Schokking, J.1    Koot, H.2    Wiersma, D.3
  • 33
    • 39049092782 scopus 로고    scopus 로고
    • Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism
    • Zamproni I., Grasberger H., Cortinovis F., et al. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab 93 (2008) 605-610
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 605-610
    • Zamproni, I.1    Grasberger, H.2    Cortinovis, F.3
  • 34
    • 57349176149 scopus 로고    scopus 로고
    • Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program
    • Maruo Y., Takahashi H., Soeda I., et al. Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. J Clin Endocrinol Metab 93 (2008) 4261-4267
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 4261-4267
    • Maruo, Y.1    Takahashi, H.2    Soeda, I.3
  • 36
    • 47549119699 scopus 로고    scopus 로고
    • Long-term cardiovascular effects of levothyroxine therapy in young adults with congenital hypothyroidism
    • Salerno M., Oliviero U., Lettiero T., et al. Long-term cardiovascular effects of levothyroxine therapy in young adults with congenital hypothyroidism. J Clin Endocrinol Metab 93 7 (2008) 2486-2491
    • (2008) J Clin Endocrinol Metab , vol.93 , Issue.7 , pp. 2486-2491
    • Salerno, M.1    Oliviero, U.2    Lettiero, T.3
  • 37
    • 0038556756 scopus 로고    scopus 로고
    • Congenital hypothyroidism: an analysis of persisting deficits and associated factors
    • Rovet J. Congenital hypothyroidism: an analysis of persisting deficits and associated factors. Child Neuropsychol 8 3 (2002) 150-162
    • (2002) Child Neuropsychol , vol.8 , Issue.3 , pp. 150-162
    • Rovet, J.1
  • 38
    • 0345714829 scopus 로고    scopus 로고
    • Congenital hypothyroidism: developmental outcome in relation to levothyroxine treatment variables
    • Heyerdahl S., and Oerbeck B. Congenital hypothyroidism: developmental outcome in relation to levothyroxine treatment variables. Thyroid 13 (2003) 1029-1038
    • (2003) Thyroid , vol.13 , pp. 1029-1038
    • Heyerdahl, S.1    Oerbeck, B.2
  • 39
    • 0035993329 scopus 로고    scopus 로고
    • Linear growth in children with congenital hypothyroidism detected by neonatal screen and treated early: a longitudinal study
    • Morin A., Guimarey L., and Apezteguia M. Linear growth in children with congenital hypothyroidism detected by neonatal screen and treated early: a longitudinal study. J Pediatr Endocrinol Metab 15 (2002) 973-977
    • (2002) J Pediatr Endocrinol Metab , vol.15 , pp. 973-977
    • Morin, A.1    Guimarey, L.2    Apezteguia, M.3
  • 40
    • 0141890035 scopus 로고    scopus 로고
    • Congenital hypothyroidism: influence of disease severity and L-thyroxine treatment on intellectual, motor, and school-associated outcomes in young adults
    • Oerbeck B., Sundet K., Kase B., et al. Congenital hypothyroidism: influence of disease severity and L-thyroxine treatment on intellectual, motor, and school-associated outcomes in young adults. Pediatrics 112 (2003) 923-930
    • (2003) Pediatrics , vol.112 , pp. 923-930
    • Oerbeck, B.1    Sundet, K.2    Kase, B.3
  • 41
    • 0036033616 scopus 로고    scopus 로고
    • Long-term consequences of congenital hypothyroidism in the era of screening programmes
    • Gruters A., Jenner A., and Krude H. Long-term consequences of congenital hypothyroidism in the era of screening programmes. Best Pract Res Clin Endocrinol Metab 16 (2002) 369-382
    • (2002) Best Pract Res Clin Endocrinol Metab , vol.16 , pp. 369-382
    • Gruters, A.1    Jenner, A.2    Krude, H.3
  • 42
    • 70449806633 scopus 로고    scopus 로고
    • Neonatal thyroxine, maternal thyroid function, and child cognition
    • Oken E., Braverman L., Platek D., et al. Neonatal thyroxine, maternal thyroid function, and child cognition. J Clin Endocrinol Metab 93 (2008) 2648-2653
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 2648-2653
    • Oken, E.1    Braverman, L.2    Platek, D.3
  • 43
    • 0035565732 scopus 로고    scopus 로고
    • Pre- and postnatal brain development in neonates with congenital hypothyroidism
    • Bongers-Schokking J. Pre- and postnatal brain development in neonates with congenital hypothyroidism. J Pediatr Endocrinol Metab 14 Suppl 6 (2001) 1463-1468
    • (2001) J Pediatr Endocrinol Metab , vol.14 , Issue.SUPPL. 6 , pp. 1463-1468
    • Bongers-Schokking, J.1
  • 44
    • 1042299811 scopus 로고    scopus 로고
    • Predictors of intellectual outcome in a cohort of Brazilian children with congenital hypothyroidism
    • Kreisner E., Schermann L., Camargo-Neto E., et al. Predictors of intellectual outcome in a cohort of Brazilian children with congenital hypothyroidism. Clin Endocrinol (Oxf) 60 (2004) 250-255
    • (2004) Clin Endocrinol (Oxf) , vol.60 , pp. 250-255
    • Kreisner, E.1    Schermann, L.2    Camargo-Neto, E.3
  • 45
    • 0037967164 scopus 로고    scopus 로고
    • Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine?
    • Cassio A., Cacciari E., Cicognani A., et al. Treatment for congenital hypothyroidism: thyroxine alone or thyroxine plus triiodothyronine?. Pediatrics 111 (2003) 1055-1060
    • (2003) Pediatrics , vol.111 , pp. 1055-1060
    • Cassio, A.1    Cacciari, E.2    Cicognani, A.3
  • 46
    • 0036268338 scopus 로고    scopus 로고
    • Congenital hypothyroidism in Western Australia 1981-1998
    • Kurinczuk J., Bower C., Lewis B., et al. Congenital hypothyroidism in Western Australia 1981-1998. J Paediatr Child Health 38 (2002) 187-191
    • (2002) J Paediatr Child Health , vol.38 , pp. 187-191
    • Kurinczuk, J.1    Bower, C.2    Lewis, B.3
  • 47
    • 47549107659 scopus 로고    scopus 로고
    • Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening
    • Veer L., Kempers M., Last B., et al. Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening. J Clin Endocrinol Metab 93 (2008) 2654-2661
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 2654-2661
    • Veer, L.1    Kempers, M.2    Last, B.3
  • 48
    • 20444462824 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia
    • Merke D.P., and Bornstein S.R. Congenital adrenal hyperplasia. Lancet 365 (2005) 125-136
    • (2005) Lancet , vol.365 , pp. 125-136
    • Merke, D.P.1    Bornstein, S.R.2
  • 49
    • 33846214395 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia and P450 oxidoreductase deficiency
    • Krone N., Dhir V., Ivison H., et al. Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clin Endocrinol 66 (2000) 162-172
    • (2000) Clin Endocrinol , vol.66 , pp. 162-172
    • Krone, N.1    Dhir, V.2    Ivison, H.3
  • 50
    • 0042466547 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia
    • Speiser P., and White P. Congenital adrenal hyperplasia. N Engl J Med 349 (2003) 776-788
    • (2003) N Engl J Med , vol.349 , pp. 776-788
    • Speiser, P.1    White, P.2
  • 51
    • 0028068309 scopus 로고
    • Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17β-hydroxyprogesterone to gestational age
    • Torresani T., Grüters A., Scherz R., et al. Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17β-hydroxyprogesterone to gestational age. Screening 3 (1994) 77-84
    • (1994) Screening , vol.3 , pp. 77-84
    • Torresani, T.1    Grüters, A.2    Scherz, R.3
  • 52
    • 38049048682 scopus 로고    scopus 로고
    • Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Riepe F., and Sippell W. Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Rev Endocr Metab Disord 8 (2007) 349-363
    • (2007) Rev Endocr Metab Disord , vol.8 , pp. 349-363
    • Riepe, F.1    Sippell, W.2
  • 53
    • 0017658750 scopus 로고
    • Microfilter paper method for 17β-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia
    • Pang S., Hotchkiss J., Drash A.L., et al. Microfilter paper method for 17β-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 45 (1977) 1003-1008
    • (1977) J Clin Endocrinol Metab , vol.45 , pp. 1003-1008
    • Pang, S.1    Hotchkiss, J.2    Drash, A.L.3
  • 54
    • 0031797980 scopus 로고    scopus 로고
    • Development of a highly sensitive nonisotopic immunoassay for the determination of salivary 17-hydroxyprogesterone: reference ranges throughout childhood and adolescence
    • Dressendorfer R., Strasburger C., Bidlingmaier F., et al. Development of a highly sensitive nonisotopic immunoassay for the determination of salivary 17-hydroxyprogesterone: reference ranges throughout childhood and adolescence. Pediatr Res 44 (1998) 650-655
    • (1998) Pediatr Res , vol.44 , pp. 650-655
    • Dressendorfer, R.1    Strasburger, C.2    Bidlingmaier, F.3
  • 55
    • 34447128813 scopus 로고    scopus 로고
    • Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry
    • Janzen N., Peter M., Sander S., et al. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab 92 (2007) 2581-2589
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 2581-2589
    • Janzen, N.1    Peter, M.2    Sander, S.3
  • 56
    • 34548476003 scopus 로고    scopus 로고
    • Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)
    • Matern D., Tortorelli S., Oglesbee D., et al. 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 30 (2007) 585-592
    • (2007) J Inherit Metab Dis , vol.30 , pp. 585-592
    • Matern, D.1    Tortorelli, S.2    Oglesbee, D.3
  • 57
    • 3442878589 scopus 로고    scopus 로고
    • Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
    • Minutti C., Lacey J., Magera M., et al. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 89 (2004) 3687-3693
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 3687-3693
    • Minutti, C.1    Lacey, J.2    Magera, M.3
  • 58
    • 49749096003 scopus 로고    scopus 로고
    • Corrected 17-alpha-hydroxyprogesterone values adjusted by a scoring system for screening congenital adrenal hyperplasia in premature infants
    • Lee J., Moon Y., Lee M., et al. Corrected 17-alpha-hydroxyprogesterone values adjusted by a scoring system for screening congenital adrenal hyperplasia in premature infants. Ann Clin Lab Sci 38 (2008) 235-240
    • (2008) Ann Clin Lab Sci , vol.38 , pp. 235-240
    • Lee, J.1    Moon, Y.2    Lee, M.3
  • 59
    • 0030729272 scopus 로고
    • Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels
    • Allen D., Hoffman G., Fitzpatrick P., et al. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr 130 (1994) 128-133
    • (1994) J Pediatr , vol.130 , pp. 128-133
    • Allen, D.1    Hoffman, G.2    Fitzpatrick, P.3
  • 60
    • 0346732365 scopus 로고    scopus 로고
    • Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value
    • Olgemöller B., Roscher A., Liebl B., et al. Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab 88 (2003) 5790-5794
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 5790-5794
    • Olgemöller, B.1    Roscher, A.2    Liebl, B.3
  • 61
    • 0035703617 scopus 로고    scopus 로고
    • Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol
    • Gruneiro-Papendieck L., Prieto L., Chiesa A., et al. Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol. Horm Res 55 (2001) 271-277
    • (2001) Horm Res , vol.55 , pp. 271-277
    • Gruneiro-Papendieck, L.1    Prieto, L.2    Chiesa, A.3
  • 62
    • 34548510123 scopus 로고    scopus 로고
    • Neonatal screening: from the 'Guthrie age' to the 'genetic age'
    • Dhondt J.L. Neonatal screening: from the 'Guthrie age' to the 'genetic age'. J Inherit Metab Dis 30 (2007) 418-422
    • (2007) J Inherit Metab Dis , vol.30 , pp. 418-422
    • Dhondt, J.L.1
  • 63
    • 0033818514 scopus 로고    scopus 로고
    • Determination of 17-hydroxyprogesterone in plasma by stable isotope dilution/benchtop liquid chromatography-tandem mass spectrometry
    • Wudy S.A., Hartmann M., and Svoboda M. Determination of 17-hydroxyprogesterone in plasma by stable isotope dilution/benchtop liquid chromatography-tandem mass spectrometry. Horm Res 53 (2000) 68-71
    • (2000) Horm Res , vol.53 , pp. 68-71
    • Wudy, S.A.1    Hartmann, M.2    Svoboda, M.3
  • 64
    • 19244384203 scopus 로고    scopus 로고
    • Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants
    • Nordenstrom A., Wedell A., Hagenfeldt L., et al. Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics 108 (2001) 68-74
    • (2001) Pediatrics , vol.108 , pp. 68-74
    • Nordenstrom, A.1    Wedell, A.2    Hagenfeldt, L.3
  • 65
    • 0028981015 scopus 로고
    • 17β-Hydroxyprogesterone, 4-androstenedione, and testosterone profiled by routine stable isotope dilution/gas chromatography-mass spectrometry in plasma of children
    • Wudy S., Wachter U., Homoki J., et al. 17β-Hydroxyprogesterone, 4-androstenedione, and testosterone profiled by routine stable isotope dilution/gas chromatography-mass spectrometry in plasma of children. Pediatr Res 38 (1995) 76-80
    • (1995) Pediatr Res , vol.38 , pp. 76-80
    • Wudy, S.1    Wachter, U.2    Homoki, J.3
  • 66
    • 0031726716 scopus 로고    scopus 로고
    • Congenital adrenal hypoplasia: clinical spectrum: experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene
    • Peter M., Viemann M., Partsch C., et al. Congenital adrenal hypoplasia: clinical spectrum: experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. J Clin Endocrinol Metab 83 (1998) 2666-2674
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2666-2674
    • Peter, M.1    Viemann, M.2    Partsch, C.3
  • 67
    • 34548486019 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia: diagnostic advances
    • Torresani T., and Biason-Lauber A. Congenital adrenal hyperplasia: diagnostic advances. J Inherit Metab Dis 30 (2007) 563-575
    • (2007) J Inherit Metab Dis , vol.30 , pp. 563-575
    • Torresani, T.1    Biason-Lauber, A.2
  • 68
    • 0035034620 scopus 로고    scopus 로고
    • Growth hormone therapy alone or in combination with gonadotropin releasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia
    • Quintos J.B., Vogiatzi M.G., Harbison M.D., et al. Growth hormone therapy alone or in combination with gonadotropin releasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 86 (2001) 1511-1517
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 1511-1517
    • Quintos, J.B.1    Vogiatzi, M.G.2    Harbison, M.D.3
  • 69
    • 0036283875 scopus 로고    scopus 로고
    • Metformin therapy in obese adolescents with polycystic ovary syndrome and impaired glucose tolerance: amelioration of exaggerated adrenal response to adrenocorticotropin with reduction of insulinemia/insulin resistance
    • Arslanian S.A., Lewy V., Danadian K., et al. Metformin therapy in obese adolescents with polycystic ovary syndrome and impaired glucose tolerance: amelioration of exaggerated adrenal response to adrenocorticotropin with reduction of insulinemia/insulin resistance. J Clin Endocrinol Metab 87 (2002) 1555-1559
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 1555-1559
    • Arslanian, S.A.1    Lewy, V.2    Danadian, K.3
  • 70
    • 0032730796 scopus 로고    scopus 로고
    • Effects of metformin on adrenal steroidogenesis in women with polycystic ovary syndrome
    • Marca A., Morgante G., Paglia T., et al. Effects of metformin on adrenal steroidogenesis in women with polycystic ovary syndrome. Fertil Steril 72 (1999) 985-989
    • (1999) Fertil Steril , vol.72 , pp. 985-989
    • Marca, A.1    Morgante, G.2    Paglia, T.3
  • 71
    • 7844228795 scopus 로고    scopus 로고
    • Chronic effects of a nonpeptide corticotropin-releasing hormone type I receptor antagonist on pituitary-adrenal function, body weight, and metabolic regulation
    • Bornstein S., Webster E., Torpy D., et al. Chronic effects of a nonpeptide corticotropin-releasing hormone type I receptor antagonist on pituitary-adrenal function, body weight, and metabolic regulation. Endocrinology 139 (1998) 1546-1555
    • (1998) Endocrinology , vol.139 , pp. 1546-1555
    • Bornstein, S.1    Webster, E.2    Torpy, D.3
  • 72
    • 0030445812 scopus 로고    scopus 로고
    • In vivo and in vitro characterization of antalarmin, a nonpeptide corticotropin-releasing hormone (CRH) receptor antagonist: suppression of pituitary ACTH release and peripheral inflammation
    • Webster E., Lewis D., Torpy D., et al. In vivo and in vitro characterization of antalarmin, a nonpeptide corticotropin-releasing hormone (CRH) receptor antagonist: suppression of pituitary ACTH release and peripheral inflammation. Endocrinology 137 (1996) 5747-5750
    • (1996) Endocrinology , vol.137 , pp. 5747-5750
    • Webster, E.1    Lewis, D.2    Torpy, D.3
  • 73
    • 33846023727 scopus 로고    scopus 로고
    • Universal newborn screening and adverse medical outcomes: a historical note
    • Brosco J., Seider M., and Dunn A. Universal newborn screening and adverse medical outcomes: a historical note. Ment Retard Dev Disabil Res Rev 12 (2006) 262-269
    • (2006) Ment Retard Dev Disabil Res Rev , vol.12 , pp. 262-269
    • Brosco, J.1    Seider, M.2    Dunn, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.