Diagnosis and management of congenital adrenal hyperplasia

Annual Review of Medicine

Volumn 49, Issue , 1998, Pages 311-328

  New, Maria I ^a  

^a WEILL CORNELL MEDICAL CENTER   (United States)

Author keywords

11 hydroxylase; 17 hydroxylase 17, 20 lyase; 21 hydroxylase deficiency; 3 hydroxysteroid dehydrogenase; Androgen excess; Cholesterol demolase; CYP11B1; CYP21; Hypertension; Prenatal diagnosis and treatment

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CORTICOTROPIN; HYDROCORTISONE; STEROID 11BETA MONOOXYGENASE; STEROID 21 MONOOXYGENASE;

CONGENITAL ADRENAL HYPERPLASIA; EARLY DIAGNOSIS; ENZYME DEFICIENCY; GENE ISOLATION; HUMAN; HYPOPHYSIS FUNCTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SEX DIFFERENCE; STEROIDOGENESIS;

3-HYDROXYSTEROID DEHYDROGENASES; ADRENAL CORTEX; ADRENAL CORTEX HORMONES; ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME; FEMALE; FETAL DISEASES; HUMANS; HYDROCORTISONE; MALE; METABOLISM, INBORN ERRORS; MUTATION; PITUITARY GLAND; PREGNANCY; PRENATAL DIAGNOSIS; SEX DIFFERENTIATION DISORDERS; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; STEROID 21-HYDROXYLASE;

EID: 0031981073     PISSN: 00664219     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.med.49.1.311     Document Type: Review

References (17)

1. New MI, White PC. 1995. Genetic disorders of steroid metabolism. In Genetic and Molecular Biological Aspects of Endocrine Diseases, ed. R Thakker, KGMM Alberti, HG Burger, et al, pp. 525-54. London: Bailliere Tindall
2. 1a. New MI, Levine LS. 1973. Congenital adrenal hyperplasia. In Advances in Human Genetics, ed. H Harris, K Hirschhorn, pp. 251-326. New York: Plenum
3. Jost A. 1971. Embryonic sexual differentiation. In Hermaphroditism, Genital Anomalies and Related Endocrine Disorders, ed. HW Jones, WW Scott, p. 16. Baltimore: Wilkins & Wilkins
4. Prader A. 1958. Vollkommen mannliche aussere Genitalentwicklung und Salzverlustsyndrom bei Madchen mit kongenitaliem adrenogenitalem Syndrome. Helv. Paediatr. Acta 13:2313
5. New MI. 1995. Congenital adrenal hyperplasia. In Endocrinology, ed. LJ DeGroot, M Besser, HG Burger, et al, pp. 1813-35. Philadelphia: Saunders. 3rd ed.
6. Luetscher JA. 1956. Studies of aldosterone in relation to water and electrolyte balance in man. Recent Prog. Harm. Res. 12:175
7. Rosier A, Levine LS, Schneider B, et al. 1977. The interrelationship of sodium balance, plasma renin activity and ACTH in congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 45:500-512
8. Stoner E, DiMartino J, Kuhnle U, et al. 1986. Is salt wasting in congenital adrenal hyperplasia due to the same genetics as the fasciculata defect? Clin. Endocrinol. 24:9-20
9. Pang SY, Wallace MA, et al. 1988. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81:866-74
10. Pang S, Clark A. 1990. Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Trends Endocrinol. Metab. 1:300-7
11. 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 2:105-39
12. Speiser PW, Dupont B, Rubinstein P, et al. 1985. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am. J. Hum. Gen. 37:650-67
13. Sherman SL, Aston CE, et al. 1988. A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. Am. J. Hum. Genet. 42: 830-38
14. Zerah M, Ueshiba H, et al. 1990. Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study. J. Clin. Endocrinol. Metab. 70:1662-67
15. Bongiovanni AM, Eberlein WR, Cara J. 1954. Studies on metabolism of adrenal steroids in adrenogenital syndrome. J. Clin. Endocrinol. Metab. 14:409
16. Butler GC, Marian GF. 1937. The isolation of pregnane-3,17,20-triol from the urine of women showing the adrenogenital sydrome. J. Biol. Chem. 119:565
17. New MI, Lorenzen F, Lerner AJ, et al. 1983. Genotyping steroid 21-hyroxylase: hormonal reference data. J. Clin. Endocrinol. Metab. 57:320-326