Inborn errors of steroidogenesis

Steroids

Volumn 63, Issue 5-6, 1998, Pages 238-242

  New, Maria I ^a  

^a WEILL CORNELL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; CORTICOSTEROID; CORTICOTROPIN; DEXAMETHASONE; HYDROCORTISONE; STEROID 11BETA MONOOXYGENASE;

CONGENITAL ADRENAL HYPERPLASIA; CORTICOSTEROID THERAPY; GENETIC PREDISPOSITION; HUMAN; INBORN ERROR OF METABOLISM; MOLECULAR GENETICS; NOTE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PREPUBERTY; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS;

EID: 0032076712     PISSN: 0039128X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0039-128X(98)00028-2     Document Type: Article

References (13)

1. 1. New MI, Crawford C, Wilson RC (1996). Genetic disorders of the adrenal steroidogenic enzymes. In: Emery AEH, Rimoin D (eds), Principles and Practice of Medical Genetics, 3rd Ed. Churchill, Livingstone, New York, pp. 1441-1476.
2. 2. New MI, White PC (1995). Genetic disorders of steroid metabolism. In: Alberti KGMM, Burger HG, Cohen RD, et al. (eds), Genetic and Molecular Biological Aspects of Endocrine Diseases. Bailliere Tindall, London, pp. 525-554.
3. 3. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI (1985). High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Gen 37:650-667.
4. 4. Mercado AB, Wilson RC, Cheng KC, Wei J-Q, New MI (1995). Extensive personal experience: Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 80:2014-2020.
5. 5. Pang S, Clark A (1993). Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening 2:105-139.
6. 6. New MI, Newfield R (1997). Congenital adrenal hyperplasia. In: Bardin CW (ed), Current Therapy in Endocrinology and Metabolism, 6th Ed. Philadelphia, CW Bardin, Mosby-Year Book, pp. 179-187.
7. 7. Wilson RC, Mercado AB, Cheng KC, New MI (1995). Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype. J Clin Endocrinol Metab 64:86-91.
8. 8. Rosler A, Leiberman E (1984). Enzymatic defects of steroidogenesis: 11β-hydroxylase deficiency congenital adrenal hyperplasia. In: New MI (ed), Adrenal Disorders in Childhood, Karger, Basel, Switzerland, pp. 47-71.
9. 9. Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L (1993). Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci USA 90:4552-4556.
10. 10. Newfield RN, Pascoe L, Curnow KM, Harbison MD, New MI (1996). Prenatal diagnosis and treatment, resulting in normal female genitalia in a fetus affected with congenital adrenal hyperplasia owing to 11β-hydroxylase deficiency. 10th International Congress of Endocrinology, Program of Abstracts, San Francisco, June 12-15, 1996.
11. 11. Bongiovanni AM (1984). Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase. In: New MI, Levine LS (eds), Adrenal Diseases in Childhood. Karger, Basel, Switzerland, pp. 72-82.
12. 12. Pang S, Lerner AJ, Stoner E, Levine LS, Oberfield SE, Engel I, New MI (1985). Late-onset adrenal steroid 3β-hydroxysteroid dehydrogenase deficiency: A cause of hirsutism in pubertal and postpubertal women. J Clin Endocrinol Metab 60:428-439.
13. 13. Simard J, Rheaume E, Sanchez R, Laflamme N, de Launoit Y, Luu-The V, van Jeters A, Gordon RD, Bettendorf M, Heinrich U, Moshong T, New MI, Labrie F (1993). Molecular basis of congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency. Mol Endocrinol 7:716-728.