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.
PMID:35937831
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.
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.
PMID:24140098
Molecular basis of 17alpha-hydroxylase/17,20-lyase deficiency.