A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency

[1] Miller WL(2011)The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders Endocr. Rev. 32 81-151

[2] Auchus RJ(2012)17a-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development J. Pediatr. Adolesc. Gynecol. 25 e103-e105

[3] Oh YK(2001)17-Hydroxylase: an evaluation of the present view of its catalytic role in steroidogenesis J. Steroid Biochem. Mol. Biol. 78 299-312

[4] Ryoo U(2004)Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency J. Clin. Endocrinol. Metab. 89 49-60

[5] Kim D(1996)Mutation of cytochrome P-45017 a gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17 J. Clin. Endocrinol. Metab. 81 3797-3801

[6] Lieberman S(2015)New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17 alpha hydroxylase/17,20-lyase deficiency J. Steroid Biochem Mol. Biol. 150 11-16

[7] Warne PA(2016)Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect Endocrine 53 784-790

[8] Costa-Santos M(2018)A rare cause of congenital adrenal hyperplasia: clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel mutations J. Clin. Res. Pediatr. Endocrinol. 10 206-215

[9] Kater CE(2017)Genetics of congenital adrenal hyperplasia Endocrinol. Metab. Clin. North Am. 46 435-458

[10] Auchus RJ(2017)Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic J. Steroid. Biochem. Mol. Biol. 165 71-78

[1] Miller WL(2011)The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders Endocr. Rev. 32 81-151

[2] Auchus RJ(2012)17a-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development J. Pediatr. Adolesc. Gynecol. 25 e103-e105

[3] Oh YK(2001)17-Hydroxylase: an evaluation of the present view of its catalytic role in steroidogenesis J. Steroid Biochem. Mol. Biol. 78 299-312

[4] Ryoo U(2004)Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency J. Clin. Endocrinol. Metab. 89 49-60

[5] Kim D(1996)Mutation of cytochrome P-45017 a gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17 J. Clin. Endocrinol. Metab. 81 3797-3801

[6] Lieberman S(2015)New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17 alpha hydroxylase/17,20-lyase deficiency J. Steroid Biochem Mol. Biol. 150 11-16

[7] Warne PA(2016)Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect Endocrine 53 784-790

[8] Costa-Santos M(2018)A rare cause of congenital adrenal hyperplasia: clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel mutations J. Clin. Res. Pediatr. Endocrinol. 10 206-215

[9] Kater CE(2017)Genetics of congenital adrenal hyperplasia Endocrinol. Metab. Clin. North Am. 46 435-458

[10] Auchus RJ(2017)Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic J. Steroid. Biochem. Mol. Biol. 165 71-78