Variable ACTH-Stimulated 17-Hydroxyprogesterone Values in 21-Hydroxylase Deficiency Carriers Are Not Related to the Different CYP21 Gene Mutations
نویسندگان
چکیده
منابع مشابه
Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.
OBJECTIVE The aims of the present study were (a) to examine the occurrence of 21-hydroxylase gene (CYP21) mutations in patients with unilateral and bilateral adrenal incidentalomas and (b) to correlate the results of mutation screening with hormonal parameters of 21-hydroxylase deficiency. DESIGN The frequency of the eight commonly occurring CYP21 mutations in blood DNA samples of 19 patients...
متن کاملHigh-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency.
Congenital adrenal hyperplasia (CAH) describes a group of disorders characterized by enzyme defects in adrenal steroidogenesis. 21-hydroxylase deficiency (21-OHD) is the most commonly encountered form. The analysis of steroids in pediatric cases requires high-sensitivity assays. A 14-year-old Syrian girl was referred for evaluation of short stature, amenorrhea, and hirsutism. On physical examin...
متن کاملAnalysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
BACKGROUND A single nonfunctional chimeric gene with its 5' and 3' ends corresponding to CYP21P and CYP21, respectively, is caused by unequal gene crossover in the CYP21 genes during meiosis. The presence of the chimeric CYP21P/CYP21 molecule can not be detected by conventional PCR methods and therefore may be lost in PCR amplification. This leads to a false result and diagnostic discordance. ...
متن کاملFrequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
OBJECTIVE To undertake mutational analysis in patients with different forms of steroid 21-hydroxylase deficiency. SUBJECTS AND METHODS CYP21 gene molecular analysis was performed in 76 Czech patients diagnosed with steroid 21-hydroxylase deficiency. Eight of the most common point mutations (intron 2 splice, P30L, 8bp deletion in exon 3, I172N, V281L, Q318X, R356W, and P453S) were analyzed usi...
متن کاملMultiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency.
Maturation of primary RNA transcripts of eukaryotic genes often involves the removal of introns and joining of exons. The fidelity of RNA splicing is dependent on the identity of the nucleotide (nt) sequences at exon/intron boundaries. Most importantly, the highly conserved intronic 5'GT and 3'AG sequences are essential for correct splicing. Substitution of GT by any other nt leads to incomplet...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2002
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.87.2.8247