Abstract
The deficiency of 17α-hydroxylase/17,20-lyase causes a rare autosomal recessive disorder presenting with congenital adrenal insufficiency (CAH) and sexual infantilism. Both 17α-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 amenhorrea, 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).
Similar content being viewed by others
References
Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man. J Clin Invest 1966, 45: 1946–54.
New MI. Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency. J Clin Invest 1970, 49: 1930–41.
Bricaire H, Luton JP, Laudat P, et al. A new male pseudohermaphroditism associated with hypertension due to a block of 17-hydroxylation. J Clin Endocrinol Metab 1972, 35: 67–72.
Yanase T, Simpson ER, Waterman MR. 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev 1991, 12: 91–108.
Geller DH, Auchus RJ, Mendonca BB, Miller WL. The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet 1997, 17: 201–5.
Costa-Santos M, Kater CE, Auchus RJ. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 2004, 89: 49–60.
Satoh J, Kuroda Y, Nawata H, Yanase T. Molecular basis of hypokalemic myopathy caused by 17alpha-hydroxylase/17,20-lyase deficiency. Neurology 1998, 51: 1748–51.
Kater CE, Biglieri EG. Disorders of steroid 17 alpha-hydroxylase deficiency. Endocrinol Metab Clin North Am 1994, 23: 341–57.
Moreira AC, Leal AM, Castro M. Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab 1990, 71: 86–91.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Nuzzo, V., Tauchmanova, L., Brunetti-Pierri, R. et al. A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency. J Endocrinol Invest 32, 322–324 (2009). https://doi.org/10.1007/BF03345720
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03345720