A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency
Copyright policy )A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency
The deficiency of 17 alpha-hydroxylase/17,20-lyase causes a rare autosomal recessive disorder presenting with congenital adrenal insufficiency (CAH) and sexual infantilism. Both 17 alpha-hydroxylase and 17,20-lyase reactions are catalyzed by a single polypeptide, cytochrome P450c17 (CYP17), which is encoded by the CYP17A1 gene. We describe the clinical, hormonal, and molecular findings of a 33-yr-old patient presenting with primary amenorrhea, late onset hypertension, and hypokalemic myopathy. The molecular analysis of CYP17A1 revealed a novel homozygous missense mutation resulting in the substitution of arginine to lysine at the amino acid position 21 (p.R21L).
- University Federico II of Naples Italy
- Baylor College of Medicine United States
- University of Campania "Luigi Vanvitelli" Italy
Adult, 20-lyase deficiency, Adrenal Hyperplasia, Congenital, DNA Mutational Analysis, Homozygote, Mutation, Missense, Steroid 17-alpha-Hydroxylase, Hypokalemia, CYP17A1 gene, 17-α-hydroxylase/17,20-lyase deficiency; Congenital adrenal insufficiency; CYP17; P450c17; Primary amenorrhea; Adrenal Hyperplasia, Congenital; Adult; Amenorrhea; Amino Acid Substitution; DNA Mutational Analysis; DNA Primers; Female; Homozygote; Humans; Hypertension; Hypokalemia; Muscular Diseases; Mutation, Missense; Steroid 17-alpha-Hydroxylase, CYP17A1 gene; 17 alpha-hydroxylase/17; 20-lyase deficiency, Amino Acid Substitution, Muscular Diseases, Hypertension, 17 alpha-hydroxylase/17, Humans, Female, Amenorrhea, DNA Primers
Adult, 20-lyase deficiency, Adrenal Hyperplasia, Congenital, DNA Mutational Analysis, Homozygote, Mutation, Missense, Steroid 17-alpha-Hydroxylase, Hypokalemia, CYP17A1 gene, 17-α-hydroxylase/17,20-lyase deficiency; Congenital adrenal insufficiency; CYP17; P450c17; Primary amenorrhea; Adrenal Hyperplasia, Congenital; Adult; Amenorrhea; Amino Acid Substitution; DNA Mutational Analysis; DNA Primers; Female; Homozygote; Humans; Hypertension; Hypokalemia; Muscular Diseases; Mutation, Missense; Steroid 17-alpha-Hydroxylase, CYP17A1 gene; 17 alpha-hydroxylase/17; 20-lyase deficiency, Amino Acid Substitution, Muscular Diseases, Hypertension, 17 alpha-hydroxylase/17, Humans, Female, Amenorrhea, DNA Primers
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