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17-hydroxylase deficiency相关文献:
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.
PMID:39500362
Disorders of steroid 17 alpha-hydroxylase deficiency.
Kater CE, Biglieri EG.
Endocrinol Metab Clin North Am. 1994 Jun;23(2):341-57.
PMID:8070426
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.
PMID:7626447
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.
PMID:22217842
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.
PMID:37088984
46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.
Kawashima S, Shima H, Satake Y, Shiga N, Tachibana M, Kanno J, Kikuchi A.
Endocr J. 2025 Nov 4;72(11):1239-1244. doi: 10.1507/endocrj.EJ24-0715. Epub 2025 Jun 20.
PMID:40545346
An unusual case of 17-hydroxylase deficiency presenting with short stature.
Çömlek FÖ, Gümüş U.
Arch Pediatr. 2024 Aug;31(6):400-402. doi: 10.1016/j.arcped.2024.03.007. Epub 2024 Jul 12.
PMID:39003161
[17alpha-hydroxylase/17,20lyase deficiency].
Noguchi K.
Nihon Rinsho. 2006 Jun 28;Suppl 2:573-6.
PMID:16817466
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
Bilateral breast nodules as an unusual manifestation of 17alpha-hydroxylase/17,20-lyase deficiency.
Zhang M, Huang X, Li Q, Gui S, Lin S, Fan G, Yang J.
Front Endocrinol (Lausanne). 2025 Oct 27;16:1658362. doi: 10.3389/fendo.2025.1658362. eCollection 2025.
PMID:41220582
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