A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review

References

• Kim YM, Kang M, Choi JH, et al. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism. 2014;63(1):1–7.
   PubMed Web of Science ®Google Scholar
• Miller WL. The syndrome of 17,20 lyase deficiency. J Clin Endocrinol Metab. 2012;97(1):59–67.
   PubMed Web of Science ®Google Scholar
• Marsh CA, Auchus RJ. Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency. Fertil Steril. 2014;101(2):317–322.
   PubMed Web of Science ®Google Scholar
• Tian Q, Yao F, Zhang Y, et al. Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency. Gynecol Endocrinol. 2012;28(3):234–238.
   PubMed Web of Science ®Google Scholar
• Yanase T, Simpson ER, Waterman MR. 17 α-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev. 1991;12(1):91–108.
   PubMed Web of Science ®Google Scholar
• Tian Q, Zhang Y, Lu Z. Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases. Gynecol Endocrinol. 2008;24(7):362–367.
   PubMed Web of Science ®Google Scholar
• 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(1):49–60.
   PubMed Web of Science ®Google Scholar
• Zhang M, Sun S, Liu Y, et al. New, recurrent, and prevalent mutations: clinical and molecular characterization of 26 CHINESE patients with 17alpha-hydroxylase/17,20-lyase deficiency. J Steroid Biochem Mol Biol. 2015;150:11–16.
   PubMed Web of Science ®Google Scholar
• Wu C, Fan S, Qian Y, et al. 17alpha-hydroxylase/17, 20-lyase deficiency: clinical and molecular characterization of eight Chinese patients. Endocr Pract. 2017;23(5):576–582.
   PubMed Web of Science ®Google Scholar
• Yamagata S, Kageyama K, Usui T, et al. Identification of a homozygous c.1039C > T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17alpha-hydroxylase/17,20-lyase deficiency. Endocr J. 2022;69(2):115–120.
   PubMed Web of Science ®Google Scholar
• Maheshwari M, Arya S, Lila AR, et al. 17α-hydroxylase/17,20-lyase deficiency in 46,XY: our experience and review of literature. J Endocr Soc. 2022;6(3):bvac011.
   PubMed Web of Science ®Google Scholar
• Xia J, Liu F, Wu J, et al. Clinical and genetic characteristics of 17 α-Hydroxylase/17, 20-Lyase deficiency: c.985_987delTACinsAA mutation of CYP17A1 prevalent in the Chinese Han population. Endocr Pract. 2022;27(2):137–145.
   Web of Science ®Google Scholar
• Kurnaz E, Kartal Baykan E, Turkyilmaz A, et al. Genotypic sex and severity of the disease determine the time of clinical presentation in steroid 17α-hydroxylase/17,20-lyase deficiency. Horm Res Paediatr. 2020;93(9–10):558–566.
   PubMed Web of Science ®Google Scholar
• Carvalho LC, Brito VN, Martin RM, et al. Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects. Fertil Steril. 2016;105(6):1612–1619.
   PubMed Web of Science ®Google Scholar
• Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J Steroid Biochem Mol Biol. 2017;165(Pt A):71–78.
   PubMedGoogle Scholar
• Martin RM, Lin CJ, Costa EM, et al. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. J Clin Endocrinol Metab. 2003;88(12):5739–5746.
   PubMed Web of Science ®Google Scholar
• Takeda Y, Yoneda T, Demura M, et al. Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency. Clin Endocrinol. 2001;54(6):751–758.
   PubMed Web of Science ®Google Scholar
• Han B, Xue L, Fan M, et al. Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect. Endocrine. 2016;53(3):784–790.
   PubMed Web of Science ®Google Scholar
• Taniyama M, Tanabe M, Fau- Saito H, et al. Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman. J Clin Endocrinol Metab. 2005;90(5):2508–2511.
   PubMed Web of Science ®Google Scholar
• Xu Y, Jiang S, Yan Z, et al. Phenotypic heterogeneity and fertility potential of patients with 17-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab. 2022;107(6):e2610–e2618.
   PubMed Web of Science ®Google Scholar
• Geller DH, Auchus RJ, Mendonca BB, et al. The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet. 1997;17(2):201–205.
   PubMed Web of Science ®Google Scholar
• Van Den Akker EL, Koper JW, Boehmer AL, et al. Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. J Clin Endocrinol Metab. 2002;87(12):5714–5721.
   PubMed Web of Science ®Google Scholar
• Sousa Paredes SC, Marques O, Alves M. Partial deficiency of 17alpha-hydroxylase: a rare cause of congenital adrenal hyperplasia. BMJ Case Rep. 2019;12(12):e230778.
   PubMedGoogle Scholar
• Qiao J, Han B Fau- Liu B-L, Liu Bl Fau- Liu W, et al. A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17α-hydroxylase deficiency. Eur J Endocrinol. 2011;164(4):627–633.
   PubMed Web of Science ®Google Scholar
• Chen H, Yuan K, Zhang B, et al. A Novel compound heterozygous CYP17A1 variant causes 17α-Hydroxylase/17, 20-Lyase deficiency. Front Genet. 2019;10:e0996.
   PubMed Web of Science ®Google Scholar
• Fardella CE, Zhang LH, Mahachoklertwattana P, et al. Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab. 1993;77(2):489–493.
   PubMed Web of Science ®Google Scholar
• Lam CW, Arlt W, Chan CK, et al. Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency. Mol Genet Metab. 2001;72(3):254–259.
   PubMed Web of Science ®Google Scholar
• Qiao J, Chen X, Zuo CL, et al. Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency. Clin Endocrinol. 2010;72(3):312–319.
   PubMed Web of Science ®Google Scholar
• Croxson M, Ogilvie CM, Milsom S, et al. Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency. N Z Med J. 2012;125(1355):71–74.
   PubMedGoogle Scholar
• Xia Y, Shi P, Xia J, et al. Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency. Steroids. 2021;173:108873.
   PubMed Web of Science ®Google Scholar