Prenatal treatment of congenital adrenal hyperplasia: The United States experience

Endocrinology and Metabolism Clinics of North America

Volumn 30, Issue 1, 2001, Pages 1-13

  New, M I ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; CORTICOTROPIN; HYDROCORTISONE; STEROID 11BETA MONOOXYGENASE; STEROID 21 MONOOXYGENASE;

ADRENAL CORTEX; ANDROGEN METABOLISM; CHOLESTEROL SYNTHESIS; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFECT; ENZYME DEFICIENCY; HORMONE SYNTHESIS; HUMAN; HYDROCORTISONE RELEASE; MAJOR CLINICAL STUDY; PRENATAL CARE; PRIORITY JOURNAL; REVIEW; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 0035027628     PISSN: 08898529     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8529(08)70016-1     Document Type: Article

References (42)

1. Mutation in the CYP21B gene (Ile-172 - Asn) causes steroid 21-hydroxylase deficiency
2. The structural basis of the multiple forms of human complement component C4
3. Familial congenital adrenal hyperplasia caused by 11 beta-hydroxylase: Failure of prevention of sexual ambiguity and prenatal diagnosis
4. Congenital adrenal hyperplasia: Update on prenatal diagnosis and treatment
5. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency
6. The mapping of 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man
7. Prenatal diagnosis and treatment of 11 beta-hydroxylase deficiency congenital adrenal hyperplasia
8. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
9. Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency)
10. Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Update 88 of the French multicentric study
11. Prenatal diagnosis and treatment of 21-hydroxylase deficiency
12. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency
13. Nonsense mutation causing steroid 21-hydroxylase deficiency
14. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
15. The human gene mutation database
16. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany
17. Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia
18. Extensive personal experience: Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency
19. Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency
20. Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol
21. The P450 superfamily: Update on new sequences, gene mapping, and recommended nomenclature
22. Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data
23. Genetic disorders of steroid metabolism
24. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder
25. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
26. Enzymatic defects of steroidogenesis: 11-beta-hydroxylase deficiency congenital adrenal hyperplasia
27. High frequency of congenital adrenal hyperplasia (classic 11-beta-hydroxylase deficiency) among Jews from Morocco
28. How safe is long-term prenatal glucocorticoid treatment
29. A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency
30. High frequency of nonclassical steroid 21-hydroxylase deficiency
31. Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14, DR1
32. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms
33. A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele
34. Frequent deletion and duplication of the steroid 21-hydroxylase genes
35. A mutation in CYP11B1 (Arg-448 - His) associated with steroid 11-beta-hydroxylase deficiency in Jews of Moroccan origin
36. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man
37. Structure of the human steroid 21-hydroxylase genes
38. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency
39. Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype
40. Rapid DNA analysis by allele-specific PCR for detection of mutations in the steroid 21-hydroxylase gene
41. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
42. Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: A small sample study