The natural history and genotype-phenotype nonconcordance of HLA identical siblings with the same mutations of the 21-hydroxylase gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 18, Issue 2, 2005, Pages 143-153

  Chemaitilly, W ^a   Betensky, B P ^a   Marshall, I ^a   Wei, J Q ^a   Wilson, R C ^a   New, Maria I ^a,b  

^a Department of Obstetrics Gynecology   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

21 hydroxylase deficiency; Congenital adrenal hyperplasia; Genotype phenotype relationship

Indexed keywords

DEXAMETHASONE; HYDROCORTISONE; STEROID 21 MONOOXYGENASE;

ARTICLE; CASE REPORT; CHILD; CONGENITAL ADRENAL HYPERPLASIA; DRUG INDICATION; DRUG MONITORING; ENZYME DEFICIENCY; EXON; FOLLOW UP; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HISTOCOMPATIBILITY GENE; HLA TYPING; HUMAN; INTRON; LONG TERM CARE; MUTATIONAL ANALYSIS; PATIENT MONITORING; RADIOIMMUNOASSAY; SALT INTAKE; SIBLING; STEROID BLOOD LEVEL;

EID: 14544278986     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2005.18.2.143     Document Type: Article

References (28)

1. Speiser P, White P. Congenital adrenal hyperplasia. N Engl J Med 2003; 349: 776-788.
2. White P, Speiser P. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21: 245-291.
3. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New IM. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37: 650-667.
4. Dumic M, Ille J, Zunec R, Plavsic V, Francetic I, Skrabic V, Janjanin N, Spehar A, Wei J, Wilson R, New M. Nonclassic 21-hydroxylase deficiency in Croatia. J Pediatr Endocrinol Metab 2004; 17: 157-164.
5. Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie LM, Lesser M, New MI, White PC. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992; 90: 584-595.
6. Mornet E, Crete P, Kuttenn F, Raux-Demay MC, Boue J, White PC, Boue A. Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Hum Genet 1991; 48: 79-88.
7. Pinto G, Tardy V, Trivin C, Thalassinos C, Lortat-Jacob S, Nihoul-Fekete C, Morel Y, Brauner R. Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management. J Clin Endocrinol Metab 2003; 88: 2624-2633.
8. Wedell A. Molecular genetics of congenital adrenal hyperplasia. Acta Paediatr 1998; 87: 159-164.
9. Rumsby G, Avey C, Conway G, Honour J. Genotype-phenotype analysis in late onset 21-hydroxylase deficiency in comparison to the classical forms. Clin Endocrinol (Oxf) 1998; 48: 707-711.
10. Bachega T, Billerbeck A, Madureira G, Marcondes J, Longui C, Leite M, Arnhold I, Mendonca B. Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1998; 83: 4416-4419.
11. Wilson RC, Mercado AB, Cheng KC, New MI. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab 1995; 80: 2322-2329.
12. New M, Mercado A, Cheng K, Jackowski M, Wilson R. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. In: New M, ed. Frontiers in Endocrinology. Rome: Ares-Serono Symposia Series, 1996; 17-27.
13. Chin D, Speiser P, Imperato-McGinley J, Dixit N, Uli N, David R, Oberfield S. Study of a kindred with classic congenital adrenal hyperplasia: diagnostic challenge due to phenotypic variance. J Clin Endocrinol Metab 1998; 83: 1940-1945.
14. Speiser PW, Agdere L, Ueshiba H, White PC, New MI. Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase. N Engl J Med 1991; 324: 145-149.
15. Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1977; 45: 1003-1008.
16. Korth-Schutz S, Virdis R, Saenger P, Chow D, Levine L, New M. Serum androgens as a continuing index of adequacy of treatment of congenital adrenal hyperplasia. J Clin Endocrinol Metab 1978; 46: 452-458.
17. New M, Lorenzen F, Lerner A, Kohn B, Oberfield S, Pollack M, Dupont B, Stoner E, Levy D, Pang S, Levine L. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab 1983; 57: 320-326.
18. Charmakjian ZH, Pryor WW, Abraham GE. Radioimmunoassay for serum and urine aldosterone by celite column chromatography. Anal Lett 1974; 7: 97-108.
19. Luetscher JA, Dowdy AJ, Callaghan AM, Cohn AP. Studies of secretion and metabolism of aldosterone and cortisol. Trans Assoc Am Physicians 1962; 75: 293-300.
20. New MI, Miller B, Peterson RE. Aldosterone excretion in normal children and in children with adrenal hyperplasia. J Clin Invest 1966; 45: 412-428.
21. Preibisz J, Sealey J, Aceto R, JH L. Plasma renin activity measurements: an update. Cardiovasc Rev Rep 1982; 3: 787-804.
22. Stoner E, Dimartino-Nardi J, Kuhnle U, Levine LS, Oberfield SE, New MI. Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect? Clin Endocrinol (Oxf) 1986; 24: 9-20.
23. Keenan B, Holcombe J, Kirkland R, Potts V, Clayton G. Sodium homeostasis and aldosterone secretion in salt-losing congenital adrenal hyperplasia. J Clin Endocrinol Metab 1979; 48: 430-436.
24. Wilson RC, Wei JQ, Cheng KC, Mercado AB, New MI. Rapid DNA analysis by allele-specific PCR for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab 1995; 80: 1635-1640.
25. White PC, Vitek A, Dupont B, New MI. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 1998; 85: 4436-4440.
26. Dupont B, Hanson J. Human mixed-lymphocyte culture reaction: genetics, specificity, and biological implications. Adv Immunol 1976; 23: 107-122.
27. Higashi Y, Hiromasa T, Tanae A, Miki T, Nakura J, Kondo T, Ohura T, Ogawa E, Nakayama K, Fujii KY. Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. J Biochem 1991; 109: 638-644.
28. Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA 1988; 85: 7486-7490.