196 related articles for article (PubMed ID: 31358067)
1. Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report.
Mikami Y; Takai Y; Obata-Yasuoka M; Kumagai R; Yagyu H; Shigematsu K; Huang H; Uemura N; Shinsaka M; Saitoh M; Baba K; Seki H
J Med Case Rep; 2019 Jul; 13(1):235. PubMed ID: 31358067
[TBL] [Abstract][Full Text] [Related]
2. A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
Sun M; Yan X; Feng A; Wu X; Ye E; Wu H; Lu X; Yang H
Discov Med; 2017 Nov; 24(133):175-182. PubMed ID: 29278670
[TBL] [Abstract][Full Text] [Related]
3. An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency.
Küçükemre-Aydın B; Öğrendil-Yanar Ö; Bilge I; Baş F; Poyrazoğlu Ş; Yılmaz A; Emre S; Bundak R; Saka N; Darendeliler F
Turk J Pediatr; 2015; 57(3):277-81. PubMed ID: 26701948
[TBL] [Abstract][Full Text] [Related]
4. A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.
Guenego A; Morel Y; Ionesco O; Mallet D; Priou-Guesdon M
Ann Endocrinol (Paris); 2015 Feb; 76(1):71-4. PubMed ID: 25613935
[TBL] [Abstract][Full Text] [Related]
5. Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.
Zhang Y; Yuan Y
Medicine (Baltimore); 2023 Dec; 102(52):e36727. PubMed ID: 38206738
[TBL] [Abstract][Full Text] [Related]
6. A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.
Beştaş A; Bolu S; Unal E; Aktar Karakaya A; Eröz R; Tekin M; Haspolat YK
Endocrine; 2022 Mar; 75(3):927-933. PubMed ID: 34724156
[TBL] [Abstract][Full Text] [Related]
7. A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in
Unal E; Yıldırım R; Taş FF; Tekin S; Ceylaner S; Haspolat YK
Gynecol Endocrinol; 2020 Aug; 36(8):739-742. PubMed ID: 31885295
[No Abstract] [Full Text] [Related]
8. A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.
Kardelen AD; Toksoy G; Baş F; Yavaş Abalı Z; Gençay G; Poyrazoğlu Ş; Bundak R; Altunoğlu U; Avcı Ş; Najaflı A; Uyguner O; Karaman B; Başaran S; Darendeliler F
J Clin Res Pediatr Endocrinol; 2018 Jul; 10(3):206-215. PubMed ID: 29595516
[TBL] [Abstract][Full Text] [Related]
9. The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.
Lanzolla G; Vancieri G; Lanciotti S; Sangiuolo F; Menegatti E; Federici L; Moretti C; Brancati F
Gynecol Endocrinol; 2017 Dec; 33(12):918-922. PubMed ID: 28609197
[TBL] [Abstract][Full Text] [Related]
10. Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.
Çamtosun E; Şıklar Z; Ceylaner S; Kocaay P; Berberoğlu M
J Clin Res Pediatr Endocrinol; 2017 Jun; 9(2):163-167. PubMed ID: 28008861
[TBL] [Abstract][Full Text] [Related]
11. 17α-HYDROXYLASE DEFICIENCY IS AN UNDERDIAGNOSED DISEASE: HIGH FREQUENCY OF MISDIAGNOSES IN A LARGE COHORT OF BRAZILIAN PATIENTS.
Fontenele R; Costa-Santos M; Kater CE
Endocr Pract; 2018 Feb; 24(2):170-178. PubMed ID: 29144824
[TBL] [Abstract][Full Text] [Related]
12. Homozygous CYP17A1 mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency.
Lee MH; Won Park S; Yoon TK; Shim SH
Gynecol Endocrinol; 2012 Jul; 28(7):573-6. PubMed ID: 22452398
[TBL] [Abstract][Full Text] [Related]
13. Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.
Dundar I; Akinci A; Camtosun E; Ciftci N; Kayas L
Sex Dev; 2023; 17(1):43-50. PubMed ID: 36652930
[TBL] [Abstract][Full Text] [Related]
14. Flash glucose monitoring system was applied to cortisol treatment for a patient with congenital adrenal hyperplasia and 17α-hydroxylase deficiency.
Xiang C; Han M; Zhang Y; Yin J; Pei L; Yang J; Liu Y
BMC Endocr Disord; 2020 Sep; 20(1):144. PubMed ID: 32957973
[TBL] [Abstract][Full Text] [Related]
15. Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency.
Yamagata S; Kageyama K; Usui T; Saito K; Takayasu S; Usutani M; Terui K; Daimon M
Endocr J; 2022 Feb; 69(2):115-120. PubMed ID: 34483146
[TBL] [Abstract][Full Text] [Related]
16. [17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child].
Wei HL; Lu S; Wang XL; Li JW; Cui YP; Yao YS
Zhongguo Dang Dai Er Ke Za Zhi; 2018 Aug; 20(8):675-679. PubMed ID: 30111479
[TBL] [Abstract][Full Text] [Related]
17. 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene.
Keskin M; Uğurlu AK; Savaş-Erdeve Ş; Sağsak E; Akyüz SG; Çetinkaya S; Aycan Z
J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):919-21. PubMed ID: 25719302
[TBL] [Abstract][Full Text] [Related]
18. Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.
Rashmi KG; Ravichandran L; Roy A; Naik D; Kamalanathan S; Sahoo J; Chapla A; Thomas N
J ASEAN Fed Endocr Soc; 2023; 38(2):131-134. PubMed ID: 38045661
[TBL] [Abstract][Full Text] [Related]
19. Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
Dhir V; Reisch N; Bleicken CM; Lebl J; Kamrath C; Schwarz HP; Grötzinger J; Sippell WG; Riepe FG; Arlt W; Krone N
J Clin Endocrinol Metab; 2009 Aug; 94(8):3058-64. PubMed ID: 19454579
[TBL] [Abstract][Full Text] [Related]
20. [Successful assisted reproductive technology treatment for a woman with 46XX-17α-hydroxylase deficiency: A case report].
Zhang CM; Yang R; Li R; Qiao J; Wang HN; Wang Y
Beijing Da Xue Xue Bao Yi Xue Ban; 2022 Aug; 54(4):751-755. PubMed ID: 35950403
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
