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.
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.
Disorders of steroid 17 alpha-hydroxylase deficiency.
Kater CE, Biglieri EG.
Endocrinol Metab Clin North Am. 1994 Jun;23(2):341-57.
[17alpha-hydroxylase/17,20lyase deficiency].
Noguchi K.
Nihon Rinsho. 2006 Jun 28;Suppl 2:573-6.
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.
[17 alpha-hydroxylase deficiency].
Ando K.
Nihon Rinsho. 2000 Feb;58 Suppl 2:659-63.
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.
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.
