Two families, two pathways: a case series of 46, XY DSD with 17alpha-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novel CYB5A variant.
Garg R, Bhatt M, Arya AK, Jyotsna VP, Khadgawat R.
J Pediatr Endocrinol Metab. 2025 Mar 25;38(6):649-657. doi: 10.1515/jpem-2024-0613. Print 2025 Jun 26.
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.
Idkowiak J, Randell T, Dhir V, Patel P, Shackleton CH, Taylor NF, Krone N, Arlt W.
J Clin Endocrinol Metab. 2012 Mar;97(3):E465-75. doi: 10.1210/jc.2011-2413. Epub 2011 Dec 14.
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
Leung MT, Cheung HN, Iu YP, Choi CH, Tiu SC, Shek CC.
J Endocr Soc. 2019 Nov 18;4(2):bvz016. doi: 10.1210/jendso/bvz016. eCollection 2020 Feb 1.
Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role.
Shaunak M, Taylor NF, Hunt D, Davies JH.
Horm Res Paediatr. 2020;93(7-8):483-496. doi: 10.1159/000512372. Epub 2021 Feb 24.
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Auchus RJ.
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):71-78. doi: 10.1016/j.jsbmb.2016.02.002. Epub 2016 Feb 6.
Successful Delivery in 17,20-Lyase Deficiency.
Blumenfeld Z, Koren I.
J Clin Endocrinol Metab. 2021 Jun 16;106(7):1882-1886. doi: 10.1210/clinem/dgab222.
Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency.
Turcu AF, Nanba AT, Chomic R, Upadhyay SK, Giordano TJ, Shields JJ, Merke DP, Rainey WE, Auchus RJ.
Eur J Endocrinol. 2016 May;174(5):601-9. doi: 10.1530/EJE-15-1181. Epub 2016 Feb 10.
Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome.
Ghayee HK, Rege J, Watumull LM, Nwariaku FE, Carrick KS, Rainey WE, Miller WL, Auchus RJ.
J Clin Endocrinol Metab. 2011 Feb;96(2):E243-50. doi: 10.1210/jc.2010-1222. Epub 2010 Nov 17.
