Congenital adrenal hyperplasia. Clinical characteristics and genotype in newborn, childhood and adolescence;Hiperplasia suprarrenal congénita. Características clínicas, seguimiento y genotipo en la etapa perinatal, la niñez y la adolescencia

Medicina

Volumn 67, Issue 3, 2007, Pages 253-261

  Pasqualini, Titania ^a,c   Alonso, Guillermo ^a   Tomasini, Rosangela ^a   Galich, Ana Maria ^a   Buzzalino, Noemi ^a   Fernandez, Cecilia ^a,b   Minutolo, Carolina ^a   Alba, Liliana ^a   Dain, Liliana ^a,b  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b INST DE BIOL Y MED EXPERIMENTAL   (Argentina)

^c NONE   (Argentina)

Author keywords

Congenital adrenal hyperplasia; Congenital adrenal hyperplasia clinical characteristics; Congenital adrenal hyperplasia molecular genetics

Indexed keywords

CORTICOTROPIN; DEXAMETHASONE; FLUDROCORTISONE; HYDROCORTISONE; HYDROXYPROGESTERONE; METHYLPREDNISOLONE; STEROID 21 MONOOXYGENASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; BODY HEIGHT; BONE MASS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILY STUDY; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; LOW DRUG DOSE; MALE; MUTATIONAL ANALYSIS; NEWBORN; PREDICTION; PUBERTY; REFERENCE VALUE; SIBLING; STEROID 21 MONOOXYGENASE DEFICIENCY; SYMPTOM;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; CHILD; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; GENE CONVERSION; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; POINT MUTATION; STEROID 21-HYDROXYLASE;

EID: 34447297515     PISSN: 00257680     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (37)

1. New MI. 21-hydroxylase deficiency congenital adrenal hyperplasia. J Steroid Biochem Mol Biol 1994; 48: 15-22.
2. Miller WL. Genetics, diagnosis, and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994; 78: 241-6.
3. Kovács J, Votava F, Heinze G, et al. Extensive Personal Experience. Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle european countries. J Clin Endocrinol Metab 2001; 86: 2958-64.
4. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005; 365: 2125-36.
5. Azziz R, Hincapie LA, Knochenhauer ES, et al. Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study. Fertil Steril 1999; 72: 915-25.
6. Therell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2001; 30: 15-30.
7. van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol 2004; 151: U71-U75.
8. Wedell A, Chun X, Luthman H. A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish population. Human Genetics 1994b; 93: 204-6.
9. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21: 245-91.
10. Human Gene Mutation Database (HGMD) Cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), peptide 2. http://uwcmml1s.uwcm.ac.uk/uwcm/mg/search/120605.html.
11. Tusie-Luna MT, Traktman P, White PC. Determination of functional effects of mutations in the steroid 21-hydroxylase gen (CYP21) using recombinant vaccinia virus. J Biol Chem 1990; 265: 20916-22.
12. Speiser PW, Dupont B, Zhu D, et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992; 90: 584-95.
13. Dain LB, Buzzalino ND, Oneto A, et al. Classic and nonclassic 21-hydroxylase deficiency: A molecular study of Argentine patients. Clinical Endocrinol 2002; 56: 239-45.
14. Dardis A, Bergadá I, Bergadá C, Rivarola M, Belgorovsky A. Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with Classical Congenital Adrenal Hyperplasia. Journal of Pediatric Endocrinology and Metabolism 1997; 10: 55-61.
15. Dardis A, Marino R, Bergada I, et al. Análisis molecular de las mutaciones más frecuentes asociadas a la hiperplasia suprarrenal congénita por déficit de la enzima 12 hidroxilasa. Medicina (Buenos Aires) 2000; 61: 28-34.
16. Lejarraga H, Orfila G. Estándares de peso y estatura para niños y niñas argentinos después del nacimiento hasta la madurez. Arch Arg Pediatr 1987; 85: 209-22.
17. Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child 1969; 44: 291-303.
18. Marshall WA, Tanner JM. Variations in pattern of pubertal changes in boys. Arch Dis Child 1970; 45: 13-23.
19. Stikkelbroeck NMML, Otten BJ, Pasic A, et al. High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001; 86: 5721-8.
20. Cabrera MS, Voggiatzi MG, New MI. Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 2001; 86: 3070-8.
21. Ogilvie CM, Crouch NS, Rumsby G, Creighton SM, Liao LM, Conway GS. Congenital adrenal hyperplasia in adults: a review of medical, surgical and psycological issues. Clin Endocrinol 2006; 64: 2-11.
22. Clayton PE, Miller WL, Oberfield SE, Ritzen EM, Sippell WG, Speiser PW. Consensus statement on 21-hydroxylase deficiency from the European Society for Pediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002; 58: 188-95.
23. Joint Lwpes/EspeCAH Working Group. Consensus. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology. J Clin Endocrinol Metab 2002; 87: 4048-53.
24. Kurtoglu S, Atabek ME, Keskin M, Patiroglu TE. Adrenocortical adenoma associated with inadequately treated congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 2003; 16: 1311-4.
25. Patocs A, Toth M, Barta C, at al. Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas. Eur J Endocrinol 2002; 147: 349-55.
26. Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Human Reproduction Update 2004; 10: 469-485.
27. Tusie Luna MT, White PC. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc Natl Acad Sci USA 1995; 92: 10796-800.
28. Speiser WP. The genetics of 21-hydroxylase deficiency. The Endocrinologist 2005; 15: 37-43.
29. Moran C, Azziz R, Weintrob N, et al. Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. J Clin Endocrinol Metab 2006; 91: 3451-6.
30. Bojunga J, Welsch C, Antes I, Albrecht M, Lengauer T, Zeuzem S. Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency. Hum Genet 2005; 117: 558-64.
31. Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH. Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis. J Pediatr 2001; 138: 26-32.
32. Balsamo A, Cicognani A, Baldazzi L, et al. CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency. J Clin Endocrinol Metab 2003; 88: 5680-8.
33. Manoli I, Kanaka-Gatenbein C, Voutetakis A, Maniati-Christidi M, Dacou-Voutetakis C. Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome. Clin Endocrinol (Oxf) 2002; 57: 669-76.
34. Hagenfeldt K, Ritzen EM, Ringertz H, Helleday J, Carlstrom K. Bone mass and body composition of adult women with congenital virilizing 21-hydroxylase deficiency after glucocorticoid treatment since infancy. European J Endocrinol 2000; 143: 667-71.
35. de Almeida Freire PO, de Lemos-Marini SH, Maciel-Guerra AT, et al. Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density. J Bone Miner Metab 2003; 21: 396-401.
36. Christiansen P, Molgaard C, Muller J. Normal bone mineral content in young adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 2004; 61: 133-6.
37. Stikkelbroeck NM, Oyen WJ, van der Wilt GJ, Hermus AR, Otten BJ. Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2003; 88: 1036-42.