메뉴 건너뛰기




Volumn 19, Issue 3, 2008, Pages 96-99

Steroid 11β- hydroxylase deficiency congenital adrenal hyperplasia

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE SYNTHASE; AMILORIDE; ANDROSTENEDIONE; CALCIUM CHANNEL BLOCKING AGENT; CORTODOXONE; DEOXYCORTICOSTERONE; GLUCOCORTICOID; GROWTH HORMONE; HYDROCORTISONE; RENIN; SPIRONOLACTONE; STEROID 11BETA MONOOXYGENASE;

EID: 41149159338     PISSN: 10432760     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tem.2008.01.002     Document Type: Review
Times cited : (127)

References (37)
  • 1
    • 0020698346 scopus 로고
    • Clinical and biochemical variability of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
    • Zachmann M., et al. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 56 (1983) 222-229
    • (1983) J. Clin. Endocrinol. Metab. , vol.56 , pp. 222-229
    • Zachmann, M.1
  • 2
    • 0027173431 scopus 로고
    • Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
    • Curnow K.M., et al. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc. Natl. Acad. Sci. U. S. A. 90 (1993) 4552-4556
    • (1993) Proc. Natl. Acad. Sci. U. S. A. , vol.90 , pp. 4552-4556
    • Curnow, K.M.1
  • 3
    • 0028345429 scopus 로고
    • Genetic analysis of 11 beta-hydroxysteroid dehydrogenase
    • White P.C., et al. Genetic analysis of 11 beta-hydroxysteroid dehydrogenase. Steroids 59 (1994) 111-115
    • (1994) Steroids , vol.59 , pp. 111-115
    • White, P.C.1
  • 4
  • 5
    • 0026591712 scopus 로고
    • High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco
    • Rosler A., et al. High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco. Am. J. Med. Genet. 42 (1992) 827-834
    • (1992) Am. J. Med. Genet. , vol.42 , pp. 827-834
    • Rosler, A.1
  • 6
    • 24344466225 scopus 로고    scopus 로고
    • Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews
    • Paperna T., et al. Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. J. Clin. Endocrinol. Metab. 90 (2005) 5463-5465
    • (2005) J. Clin. Endocrinol. Metab. , vol.90 , pp. 5463-5465
    • Paperna, T.1
  • 7
    • 0014752174 scopus 로고
    • Secretion rates of cortisol and aldosterone precursors in various forms of congenital adrenal hyperplasia
    • New M.I., and Seaman M.P. Secretion rates of cortisol and aldosterone precursors in various forms of congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 30 (1970) 361-371
    • (1970) J. Clin. Endocrinol. Metab. , vol.30 , pp. 361-371
    • New, M.I.1    Seaman, M.P.2
  • 8
    • 0024842845 scopus 로고
    • Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta)
    • Mornet E., et al. Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta). J. Biol. Chem. 264 (1989) 20961-20967
    • (1989) J. Biol. Chem. , vol.264 , pp. 20961-20967
    • Mornet, E.1
  • 9
    • 0029066491 scopus 로고
    • Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency in Saudi Arabia: clinical and biochemical characteristics
    • al-Jurayyan N.A. Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency in Saudi Arabia: clinical and biochemical characteristics. Acta Paediatr. 84 (1995) 651-654
    • (1995) Acta Paediatr. , vol.84 , pp. 651-654
    • al-Jurayyan, N.A.1
  • 10
    • 0020080763 scopus 로고
    • Clinical variability of congenital adrenal hyperplasia due to 11B-hydroxylase deficiency
    • Rosler A., et al. Clinical variability of congenital adrenal hyperplasia due to 11B-hydroxylase deficiency. Horm. Res. 16 (1982) 133-141
    • (1982) Horm. Res. , vol.16 , pp. 133-141
    • Rosler, A.1
  • 11
    • 0021998167 scopus 로고
    • Hypertension in a neonate with 11 beta-hydroxylase deficiency
    • Mimouni M., et al. Hypertension in a neonate with 11 beta-hydroxylase deficiency. Eur. J. Pediatr. 143 (1985) 231-233
    • (1985) Eur. J. Pediatr. , vol.143 , pp. 231-233
    • Mimouni, M.1
  • 12
    • 0020611858 scopus 로고
    • Malignant hypertension in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency
    • Hague W.M., and Honour J.W. Malignant hypertension in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Clin. Endocrinol. (Oxf.) 18 (1983) 505-510
    • (1983) Clin. Endocrinol. (Oxf.) , vol.18 , pp. 505-510
    • Hague, W.M.1    Honour, J.W.2
  • 13
    • 0034527568 scopus 로고    scopus 로고
    • Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1
    • Chabre O., et al. Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1. J. Clin. Endocrinol. Metab. 85 (2000) 4060-4068
    • (2000) J. Clin. Endocrinol. Metab. , vol.85 , pp. 4060-4068
    • Chabre, O.1
  • 14
    • 33947403636 scopus 로고    scopus 로고
    • Cosegregation of a Novel Homozygous CYP11B1 Mutation with the Phenotype of Non-Classical Congenital Adrenal Hyperplasia in a Consanguious Family
    • Peters C.J., et al. Cosegregation of a Novel Homozygous CYP11B1 Mutation with the Phenotype of Non-Classical Congenital Adrenal Hyperplasia in a Consanguious Family. Horm. Res. 67 (2007) 189-193
    • (2007) Horm. Res. , vol.67 , pp. 189-193
    • Peters, C.J.1
  • 15
    • 0030732003 scopus 로고    scopus 로고
    • CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency
    • Joehrer K., et al. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Hum. Mol. Genet. 6 (1997) 1829-1834
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1829-1834
    • Joehrer, K.1
  • 16
    • 18644377699 scopus 로고    scopus 로고
    • Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society
    • Clayton P.E., et al. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm. Res. 58 (2002) 188-195
    • (2002) Horm. Res. , vol.58 , pp. 188-195
    • Clayton, P.E.1
  • 17
    • 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., 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
  • 18
    • 0037903275 scopus 로고    scopus 로고
    • Human Gene Mutation Database (HGMD): 2003 update
    • Stenson P.D., et al. Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 21 (2003) 577-581
    • (2003) Hum. Mutat. , vol.21 , pp. 577-581
    • Stenson, P.D.1
  • 19
    • 10144250291 scopus 로고    scopus 로고
    • CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency
    • Geley S., et al. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 81 (1996) 2896-2901
    • (1996) J. Clin. Endocrinol. Metab. , vol.81 , pp. 2896-2901
    • Geley, S.1
  • 20
    • 0034857491 scopus 로고    scopus 로고
    • Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia
    • Hampf M., et al. Unequal crossing-over between aldosterone synthase and 11beta-hydroxylase genes causes congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 86 (2001) 4445-4452
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 4445-4452
    • Hampf, M.1
  • 21
    • 0034914294 scopus 로고    scopus 로고
    • Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia
    • Portrat S., et al. Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 86 (2001) 3197-3201
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 3197-3201
    • Portrat, S.1
  • 22
    • 0018656071 scopus 로고
    • Prenatal diagnosis of 11beta hydroxylase deficiency congenital adrenal hyperplasia
    • Rosler A., et al. Prenatal diagnosis of 11beta hydroxylase deficiency congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 49 (1979) 546-551
    • (1979) J. Clin. Endocrinol. Metab. , vol.49 , pp. 546-551
    • Rosler, A.1
  • 23
    • 0018868183 scopus 로고
    • 11-Deoxycortisol in amniotic fluid: Prenatal diagnosis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency
    • Schumert Z., et al. 11-Deoxycortisol in amniotic fluid: Prenatal diagnosis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Clin. Endocrinol. (Oxf.) 12 (1980) 257-260
    • (1980) Clin. Endocrinol. (Oxf.) , vol.12 , pp. 257-260
    • Schumert, Z.1
  • 24
    • 0019471886 scopus 로고
    • Concentrations of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol, and cortisone determined simultaneously in human amniotic fluid throughout gestation
    • Sippell W.G., et al. Concentrations of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol, and cortisone determined simultaneously in human amniotic fluid throughout gestation. J. Clin. Endocrinol. Metab. 52 (1981) 385-392
    • (1981) J. Clin. Endocrinol. Metab. , vol.52 , pp. 385-392
    • Sippell, W.G.1
  • 25
    • 0033305323 scopus 로고    scopus 로고
    • Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia
    • Cerame B.I., et al. Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia. J. Clin. Endocrinol. Metab. 84 (1999) 3129-3134
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 3129-3134
    • Cerame, B.I.1
  • 26
    • 0037929570 scopus 로고    scopus 로고
    • Update: Prenatal diagnosis for congenital adrenal hyperplasia in 595 pregnancies
    • New M., et al. Update: Prenatal diagnosis for congenital adrenal hyperplasia in 595 pregnancies. Endocrinologist 13 (2003) 233-239
    • (2003) Endocrinologist , vol.13 , pp. 233-239
    • New, M.1
  • 27
    • 0037591676 scopus 로고    scopus 로고
    • Prenatal therapy in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Retrospective follow-up study of 253 treated pregnancies in 215 families
    • Forest M.G., and Dorr H.G. Prenatal therapy in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Retrospective follow-up study of 253 treated pregnancies in 215 families. Endocrinologist 13 (2003) 252-259
    • (2003) Endocrinologist , vol.13 , pp. 252-259
    • Forest, M.G.1    Dorr, H.G.2
  • 28
    • 0029006995 scopus 로고
    • Extensive personal experience: Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency
    • Mercado A.B., et al. Extensive personal experience: Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 80 (1995) 2014-2020
    • (1995) J. Clin. Endocrinol. Metab. , vol.80 , pp. 2014-2020
    • Mercado, A.B.1
  • 29
    • 14544272897 scopus 로고    scopus 로고
    • Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
    • Motaghedi R., et al. Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. J. Pediatr. Endocrinol. Metab. 18 (2005) 133-142
    • (2005) J. Pediatr. Endocrinol. Metab. , vol.18 , pp. 133-142
    • Motaghedi, R.1
  • 30
    • 0021915854 scopus 로고
    • Partial deficiency of adrenal 11-hydroxylase. A possible cause of primary hypertension
    • de Simone G., et al. Partial deficiency of adrenal 11-hydroxylase. A possible cause of primary hypertension. Hypertension 7 (1985) 204-210
    • (1985) Hypertension , vol.7 , pp. 204-210
    • de Simone, G.1
  • 31
    • 0030465271 scopus 로고    scopus 로고
    • 11 beta-Hydroxylase activity in glucocorticoid suppressible hyperaldosteronism: lessons for essential hypertension?
    • Connell J.M., et al. 11 beta-Hydroxylase activity in glucocorticoid suppressible hyperaldosteronism: lessons for essential hypertension?. Endocr. Res. 22 (1996) 691-700
    • (1996) Endocr. Res. , vol.22 , pp. 691-700
    • Connell, J.M.1
  • 32
    • 20044377754 scopus 로고    scopus 로고
    • Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion
    • Keavney B., et al. Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion. J. Clin. Endocrinol. Metab. 90 (2005) 1072-1077
    • (2005) J. Clin. Endocrinol. Metab. , vol.90 , pp. 1072-1077
    • Keavney, B.1
  • 33
    • 33847644921 scopus 로고    scopus 로고
    • Polymorphic variation in the 11beta-hydroxylase gene associates with reduced 11-hydroxylase efficiency
    • Barr M., et al. Polymorphic variation in the 11beta-hydroxylase gene associates with reduced 11-hydroxylase efficiency. Hypertension 49 (2007) 113-119
    • (2007) Hypertension , vol.49 , pp. 113-119
    • Barr, M.1
  • 34
    • 20044373454 scopus 로고    scopus 로고
    • CYP11B2-CYP11B1 haplotypes associated with decreased 11 beta-hydroxylase activity
    • Ganapathipillai S., et al. CYP11B2-CYP11B1 haplotypes associated with decreased 11 beta-hydroxylase activity. J. Clin. Endocrinol. Metab. 90 (2005) 1220-1225
    • (2005) J. Clin. Endocrinol. Metab. , vol.90 , pp. 1220-1225
    • Ganapathipillai, S.1
  • 35
    • 33845502745 scopus 로고    scopus 로고
    • Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene
    • Imrie H., et al. Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene. J. Clin. Endocrinol. Metab. 91 (2006) 5051-5056
    • (2006) J. Clin. Endocrinol. Metab. , vol.91 , pp. 5051-5056
    • Imrie, H.1
  • 36
    • 14044262355 scopus 로고    scopus 로고
    • Editorial: polymorphisms in CYP11B genes and 11-hydroxylase activity
    • White P.C., and Rainey W.E. Editorial: polymorphisms in CYP11B genes and 11-hydroxylase activity. J. Clin. Endocrinol. Metab. 90 (2005) 1252-1255
    • (2005) J. Clin. Endocrinol. Metab. , vol.90 , pp. 1252-1255
    • White, P.C.1    Rainey, W.E.2
  • 37
    • 0033607164 scopus 로고    scopus 로고
    • Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess
    • New M.I., and Wilson R.C. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 12790-12797
    • (1999) Proc. Natl. Acad. Sci. U. S. A. , vol.96 , pp. 12790-12797
    • New, M.I.1    Wilson, R.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.