title: [Analysis of CYP21A2 gene mutations in two families with 21-hydroxylase deficiency].
abstract: OBJECTIVE
  To analyze CYP21A2 gene mutation in two families with 21-hydroxylase deficiency (21-OHD) and to explore the correlation between genotype and clinical phenotype.
  
  
  METHODS
  Two patients with 21-OHD and their families were investigated. CYP21A2 gene mutation was analyzed by PCR and direct sequencing.
  
  
  RESULTS
  The probands from family 1 and 2 have been respectively diagnosed with simple virilizing and non-classical 21-OHD. Both showed increased baseline serum 17hydroxyprogesterone, testosterone and adrenocorticotropic hormone (ACTH), but had no evidence of salt loss. Computer tomography revealed bilateral adrenal hyperplasia in both patients. After 1 year treatment, both had conceived successfully. DNA sequencing revealed that the proband of family 1 had compound heterozygous mutations for IVS2 13 A>G and Ile172Asn. Her father was heterozygous for Ile172Asn, whilst her mother and brother were heterozygous for IVS213A/C>G. In family 2, the proband was heterozygous for Arg341Trp and Gln318X. Her father, sister and nephew were heterozygous for Arg341Trp, whilst her mother was heterozygous for Gln318X. her brother and niece were non-affected. Carriers of single heterozygous mutations in both families had no clinical sign.
  
  
  CONCLUSIONS
  In both families, the disease has been caused by compound heterozygous mutations, for which there has been a good genotype-phenotype agreement. Screening of CYP21A2 gene can facilitate both diagnosis and genetic counseling.
authors.affiliation: Department of Endocrinology, Henan Provincial Peoples Hospital, Zhengzhou, Henan 450003, P.R. China. Email: zhaozhigang1957@126.com.
authors.forename: Ruizhi
authors.initials: R
authors.lastname: Zheng
authors.forename: Zhigang
authors.initials: Z
authors.lastname: Zhao
authors.forename: Yanfang
authors.initials: Y
authors.lastname: Wang
authors.forename: Huijuan
authors.initials: H
authors.lastname: Yuan
authors.forename: Suijun
authors.initials: S
authors.lastname: Wang
authors.forename: Yong
authors.initials: Y
authors.lastname: Su
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Ma
authors.forename: Zhijing
authors.initials: Z
authors.lastname: Hu
authors.forename: Rui
authors.initials: R
authors.lastname: Tian
authors.forename: Limin
authors.initials: L
authors.lastname: Wang
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D001483:Base Sequence; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D013255:Steroid 21-Hydroxylase / Q000235:genetics* / Q000378:metabolism; D013739:Testosterone / Q000097:blood; D055815:Young Adult
chemical_list: D013739:Testosterone; D000324:Adrenocorticotropic Hormone; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase