Abstract CYP21A2 gene mutations in a child with congenital adrenal hyperplasia (CAH), and the child's parents, were detected in the study. The clinical features, treatment monitoring and molecular genetic mechanism of CAH are reviewed. In the study, DNA was extracted from peripheral blood samples using the QIAGEN Blood DNA Mini Kit; a highly specific PCR primer for CYP21A2 gene was designed according to the sequence difference between CYP2lA2 gene and its pseudogene; the whole CYP2lA2 gene was amplified with PrimeSTAR DNA polymerase (Takara), and the amplification product was directly sequenced to detect and analyze CYP2lA2 gene mutation. The child was clinically diagnosed with CAH (21-hydroxylase deficiency, 21-OHD) at the age of 36 days, and the case was confirmed by genetic diagnosis at the age of 1.5 years. The proband had a homozygous mutation at c.293-13C in the second intron of CYP21 gene, while the parents had heterozygous mutations. Early diagnosis and standard treatment of CAH (21-OHD) should be performed to prevent salt-wasting crisis and reduce mortality; bone aging should be avoided to increase final adult height (FAH), and reproductive dysfunction due to oligospermia in adulthood should be avoided. These factors are helpful for improving prognosis and increasing FAH. Investigating the molecular genetic mechanism of CAH can improve recognition and optimize diagnosis of this disease. In addition, carrier diagnosis and genetic counseling for the proband family are of great significance.
LIN Xiao-Mei,WU Ben-Qing,HUANG Jin-Jie et al. Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia[J]. CJCP, 2013, 15(11): 942-947.
LIN Xiao-Mei,WU Ben-Qing,HUANG Jin-Jie et al. Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia[J]. CJCP, 2013, 15(11): 942-947.
Nimkarn S, New MI. Gene ReviewsTM: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia[EB/OL]. University of Washington, Seattle; 1993-2002 Feb 26 [updated Aug 24, 2010].
Charmandari E, Matthews DR, Johnston A, Brook CG, Hindmarsh PC. Serum cortisol and 17hydroxyprogesterone interrelation in classic 21-hydroxylase deficiency: is current replacement therapy satisfactory?[J]. J Clin Endocrinol Metab, 2001, 86(10): 4679-4685.
[15]
Migeon CJ, Wisniewski AB. Congenital adrenal hypevplasia owing to 21-hydroxylase deficiency. Growth, development, and therapeutic considerations[J]. Endocrinol Metab Clin North Am, 2001, 30(1): 193-206.
[16]
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]. J Pediatr, 2001, 138(1): 26-32.
[17]
Einaudi S, Lala R, Corrias A, Matarazzo P, Pagliardini S, de Sanctis C.Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J].J Pediatr Endocrinol, 1993, 6(2): 173-178.
[18]
Owerbah D, Crawford YM, Draznin MB. Direct anatysis Of CYP21B gencs in 2l-hydroxylase deficiency using polymerase chain reaclion amphflcation[J]. Mol Endocrinol, 1990, 4(1): 125-131.
[19]
White PC, New MI, Dupont B. Structure Of human steroid 21-hydroxyiase genes[J]. Proc Natl Acad Sci USA, 1986, 83(14): 5111-5115.
[20]
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[J]. Proc Natl Acad Sci U S A, 1988, 85(20): 7486-7490.
[21]
Janjanin N, Dumic M, Skrabic V, Kusec V, Grubic Z, Spehar Uroic A.Five patient with congenital adrenal hyperplasia duo to 21-hydroxylase deficiency (one with associated neuroblastoma) discovered in three generations of one family[J]. Horm Res, 2007, 67(3):111-116.
