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Clinical and Genetic Characteristics of 17 alpha-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.
Xia J, Liu F, Wu J, Xia Y, Zhao Z, Zhao Y, Ren H, Kong X. Xia J, et al. Endocr Pract. 2021 Feb;27(2):137-145. doi: 10.4158/EP-2020-0478. Epub 2020 Dec 8. Endocr Pract. 2021. PMID: 33547012
OBJECTIVE: 17 alpha-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive hereditary disease that can be attributed to cytochrome P450 17 alpha-hydroxylase deficiency caused by CYP17A1 gene mutations. ...
OBJECTIVE: 17 alpha-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive heredi …
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
Huang H, Wang C, Tian Q. Huang H, et al. Clin Endocrinol (Oxf). 2017 Apr;86(4):621-627. doi: 10.1111/cen.13255. Epub 2016 Nov 10. Clin Endocrinol (Oxf). 2017. PMID: 27862157
The overall GCTs risk was 15.41% and 46, XY pure gonadal dysgenesis (46, XY PGD) carried the highest risk up to 23.33%, followed by complete androgen insensitivity syndrome (CAIS). The risk of mixed gonadal dysgenesis (GD) or 46, XY 17 alpha-hydroxylase/17 …
The overall GCTs risk was 15.41% and 46, XY pure gonadal dysgenesis (46, XY PGD) carried the highest risk up to 23.33%, followed by complete …