New insights on hyperglycemia in 17-hydroxylase/17,20-lyase deficiency.
Xu L, Lu L, Tong A, Chen S, Li W, Zhang H, Ping F, Li Y.
Front Endocrinol (Lausanne). 2022 Jul 22;13:917420. doi: 10.3389/fendo.2022.917420. eCollection 2022.
Disorders of steroid 17 alpha-hydroxylase deficiency.
Kater CE, Biglieri EG.
Endocrinol Metab Clin North Am. 1994 Jun;23(2):341-57.
17 alpha-Hydroxylase/17,20-lyase defects.
Yanase T.
J Steroid Biochem Mol Biol. 1995 Jun;53(1-6):153-7. doi: 10.1016/0960-0760(95)00029-y.
17alpha-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases.
Willemsen AL, Torpy DJ, De Sousa SMC, Falhammar H, Rushworth RL.
J Clin Endocrinol Metab. 2025 Mar 17;110(4):e1261-e1271. doi: 10.1210/clinem/dgae773.
Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency.
Xu Y, Jiang S, Yan Z, Niu Y, Du W, Liu B, Han B, Liu X, Zhao S, Song H, Kuang Y, Qiao J.
J Clin Endocrinol Metab. 2022 May 17;107(6):e2610-e2618. doi: 10.1210/clinem/dgac029.
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.
Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW.
Metabolism. 2014 Jan;63(1):42-9. doi: 10.1016/j.metabol.2013.08.015. Epub 2013 Oct 18.
A novel homozygous CYP17A1 mutation causes partial 17 alpha-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
Chen H, Chen Y, Mao H, Huang H, Lou X.
Blood Press. 2023 Dec;32(1):2195008. doi: 10.1080/08037051.2023.2195008.
17alpha Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z, Camtosun E, Bolu S, Yildiz M, Akinci A, Bas F, Dündar İ, Bestas A, Ünal E, Kocaay P, Guran T, Buyukyilmaz G, Ugurlu AK, Tosun BG, Turan I, Kurnaz E, Yuksel B, Turkkahraman D, Cayir A, Celmeli G, Gonc EN, Eklioğlu BS, Cetinkaya S, Yilmaz SK, Atabek ME, Buyukinan M, Arslan E, Mengen E, Cakir EDP, Karaoglan M, Hatipoglu N, Orbak Z, Ucar A, Akyurek N, Akbas ED, Isik E, Kaygusuz SB, Sutcu ZK, Seymen G, Berberoglu M.
Endocrine. 2024 Sep;85(3):1407-1416. doi: 10.1007/s12020-024-03962-6. Epub 2024 Jul 17.
Molecular basis of 17alpha-hydroxylase/17,20-lyase deficiency.
Yanase T, Imai T, Simpson ER, Waterman MR.
J Steroid Biochem Mol Biol. 1992 Dec;43(8):973-9. doi: 10.1016/0960-0760(92)90325-D.
[17 Alpha-hydroxylase deficiency].
Hachiya R, Hasegawa T.
Nihon Rinsho. 2006 May 28;Suppl 1:689-91.
