Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.
BACKGROUND
Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form. In this study, our aim is to detect the prevalence of eight common mutations in nonclassical congenital adrenal hyperplasia (NCAH).


METHODS
A total of 30 patients with clinical and laboratory evidence of NCAH was selected. Gene-specific polymerase chain reaction (PCR) without contamination of pseudogene was carried out, and PCR product of this step was used to amplification-refractory mutation system PCR on eight common mutations in CYP21A2 gene.


RESULTS
Two heterozygote patients for I2G mutation and six heterozygote patients for Q318X mutation is reported in our study. These mutations associated with the classic form of CAH, and heterozygotes presented with NC symptom, including premature pubarche and hirsutism.


CONCLUSIONS
There are some data about the association of the mutation with the clinical form of CAH including classic (salt-wasting and simple virilizing) and NC form. I2G and Q318X mutations were reported in classic form in homozygote state, but the heterozygote form associated with NC form. CAH diagnosis with NC symptom and with measurement of 17-hydroxyprogestrone as NCAH is not a trusted assessment and require to molecular analysis for accurate diagnosis.
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Mahsa
M
Kolahdouz
Department of Pediatric Endocrinology, Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Mahin
M
Hashemipour
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Hossein
H
Khanahmad
Department of Biochemistry and Genetic Group, Faculty of Medical Sciences, Qazvin University of Medical Sciences, Qazvin, Iran.
Bahareh
B
Rabbani
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Mansoor
M
Salehi
Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Ali
A
Rabbani
Department of Pediatric Endocrinology, Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Arman
A
Ansari
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Mona Mobalegh
MM
Naseri
21-hydroxylase deficiency; CYP21A2 gene; amplification-refractory mutation system polymerase chain reaction; nonclassic congenital adrenal hyperplasia