A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17, 20-lyase deficiency. (July 2013)

• Record Type: Journal Article
• Authors: Lee, Eun Sil; Kim, Myungshin; Moon, Sungdae; Jekarl, Dong Wook; Lee, Seungok; Kim, Yonggoo; Choi, Gyu Yeon
• Is Part Of: Gynecological endocrinology. Volume 29:Number 7(2013:Jul.)
• Page Start: 720
• Page End: 723
• Publication Date: 2013-07
• Subjects: Endocrine gynecology -- Periodicals; Generative organs, Female -- Diseases -- Periodicals; 618.1
• DOI: 10.3109/09513590.2013.798276
• Languages: English
• ISSNs: 0951-3590

Abstract

<abstract> <title>Abstract</title> <p> <italic>Background</italic>: Congenital adrenal hyperplasia due to 17α-hydroxylase/17, 20-lyase deficiency (OMIM #202110) is a rare autosomal recessive disorder, which is caused by mutations of the <italic>CYP17A1</italic> gene located on chromosome 10q24.3. It has been reported that the type of mutation of the <italic>CYP17A1</italic> gene was associated with the extent of 17α-hydroxylase/17, 20-lyase deficiency, and the prevalence of common mutation was different among ethnic groups.</p> <p> <italic>Case</italic>: A 21-year-old Korean female presented with primary amenorrhea and sexual infantilism, and intermittent hypokalemic episodes. Laboratory test was consistent with hypergonadotropic hypogonadism. The karyotype was 46, XX[20]. Genomic DNA was extracted from peripheral blood leukocytes. All the eight exons of the <italic>CYP17A1</italic> gene including flanking regions of introns were amplified by PCR. The mutations of the <italic>CYP17A1</italic> gene were detected by direct sequencing. A compound heterozygous mutation was identified; one allele had a missense mutation of c.1118A>T (p.His373Leu), which was reported previously and induced the complete loss of both 17α-hydroxylase/17, 20-lyase activity. This mutation has been known to be one of the common mutation types in East Asia. The other allele had a novel 1-bp deletion c.1148delA causing frameshift, premature termination codon (p.Glu383fs) and induced truncated enzymes.</p> <p> <italic>Conclusion</italic>: Our experience for stepwise clinical, laboratory and molecular approach would be helpful to diagnose these patients accurately and understand the genetic events in 17α-hydroxylase/17, 20-lyase deficiency patients.</p> </abstract>