HLA typing of patients with 21-hydroxylase deficiency in Iranian children with congenital adrenal hyperplasia

Biochemical Genetics

Volumn 46, Issue 11-12, 2008, Pages 712-719

  Haghi Ashtiani, Mohammad Taghi ^a   Rabbani, Ali ^a   Mostafavi, Fereidoun ^a   Monajemzadeh, Maryam ^a   Ranjbar Kermani, Fahimeh ^a   Soltaninia, Jila ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

21 Hydroxylase deficiency; Ambiguous genitalia; Congenital adrenal hyperplasia; Hermaphroditism; HLA typing

Indexed keywords

HLA ANTIGEN; HLA B18 ANTIGEN; HLA B21 ANTIGEN; HLA DR ANTIGEN; UNCLASSIFIED DRUG;

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC MARKER; HLA TYPING; HUMAN; INFANT; IRAN; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; PRESCHOOL CHILD; SCHOOL CHILD; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC MARKERS; HISTOCOMPATIBILITY TESTING; HLA-B ANTIGENS; HUMANS; INFANT; IRAN; MALE; STEROID 21-HYDROXYLASE;

EID: 55549148729     PISSN: 00062928     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10528-008-9186-2     Document Type: Article

References (23)

1. I Aaronson 1999 The child with ambiguous genitalia Infect Urol 12 4 113 118
2. Darke C, Dyer PA (1993) Clinical HLA typing by cytotoxicity. In: Dyer PA, Middleton D (eds) Histocompatibility testing: a practical approach. IRL Press Practical Approach Series, Oxford, pp 51-80
3. J Frias L Levine S Oberfield S Pang J Silverstein R Schwartz I Hansen F Kaufman S Varma S Oberfield J Silverstein L Levitsky M Suriano L Poulin C Cunniff C Kaye J Moeschler S Panny T Trotter F Cruz JW Hanson M Lloyd-Puryear C Moore J Williams III H Hoyme L Hall 2000 Technical report: congenital adrenal hyperplasia Pediatrics 106 6 1511 1518
4. K Glatt DL Garzon J Popovic 2005 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency J Spec Pediatr Nurs 10 3 104 114
5. J Honour 1986 Biochemical aspects of congenital adrenal hyperplasia J Inherit Metab Dis 9 Suppl 1 124 134
6. Johns Hopkins Children's Center (2003) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Retrieved 2 October 2003, from http://www.hopkinsmedicine.org/pediatricendocrinology/cah
7. N Kandemir N Yordam 1997 Congenital adrenal hyperplasia in Turkey: a review of 273 patients Acta Paediatr 86 22 25
8. A Larsson B Therrell 2002 Newborn screening: the role of the obstetrician Clin Obstet Gynecol 45 3 697 710
9. New M, Ghizzoni L (2003) Congenital adrenal hyperplasia. In: Lifshitz F (ed) Pediatric endocrinology, 4th edn. Marcel Dekker Inc., New York, pp 175-187
10. MI New F Lorenzen AJ Lerner B Kohn SE Oberfield MS Pollack B Dupont E Stoner DJ Levy S Pang LS Levine 1983 Genotyping steroid 21-hydroxylase deficiency: hormonal reference data J Clin Endocrinol Metab 57 2 320 326
11. L Parker 1998 Ambiguous genitalia: etiology, treatment, and nursing implications J Obstet Gynecol Neonatal Nurs 27 1 15 22
12. O Porzio V Cunsolo M Malaponti E De Nisco A Acquafredda L Cavallo M Andreani E Giardina M Testi M Cappa G Federici 2006 Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency J Clin Endocrinol Metab 91 11 4510 4513
13. G Rumsby MC Carroll RR Porter DB Grant M Hjelm 1986 Deletion of steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia J Med Genet 23 204 209
14. PW Speiser B Dupont P Rubinstein A Piazza A Kastelan MI New 1985 High frequency of nonclassical steroid 21-hydroxylase deficiency Am J Hum Genet 37 650 667
15. Sperling M (2002) The adrenal cortex. In: Foley F (ed) Pediatric endocrinology, 2nd edn. Saunders, Philadelphia, pp 406-413
16. P Spiser P White 2003 Congenital adrenal hyperplasia N EngI J Med 349 8 776 788
17. T Tajima K Fujieda K Nakayama Y Fujii-Kuriyama 1993 Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism J Clin Invest 92 2182 2190
18. E Trakakis D Rizos C Loghis A Chryssikopoulos M Spyropoulou E Salamalekis G Simeonides V Vagopoulos G Salamalekis D Kassanos 2008 The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome Endocr J 1 33 39
19. D Turowska-Heydel JJ Pietrzyk G Turowski 1995 Class I HLA antigens in children from families with congenital adrenal hyperplasia Pediatr Pol 70 2 109 114
20. K Von Schnakenburg F Bidlingmaier D Knorr 1980 17-Hydroxyprogesterone, androstenedione, and testosterone in normal children and in prepubertal patients with congenital adrenal hyperplasia Eur J Pediatr 133 259 267
21. G Wells RT Acton R Azziz 1993 Concordance of 21-hydroxylase gene ratio, human leukocyte antigen haplotyping and adrenal testing results in a family with late-onset adrenal hyperplasia J Reprod Med 38 615 620
22. PC White MI New B Dupont 1987 Congenital adrenal hyperplasia (second of two parts) N EngI J Med 316 1580 1586
23. Williams GH, Dluhy RG (2005) Disorders of adrenal cortex. In: Kasper DL, Fauci AS, Longo DL, Braunwald E, Hauser SL, Jameson JL (eds) Harrisonn's principles of internal medicine, 16th edn. McGraw-Hill, New york, pp 2125-2148