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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 …
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. Chen H, et al. Blood Press. 2023 Dec;32(1):2195008. doi: 10.1080/08037051.2023.2195008. Blood Press. 2023. PMID: 37088984 Review.
Aim: 17 alpha-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in …
Aim: 17 alpha-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal re …
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 …
Case report: 17 alpha-hydroxylase/17,20-lyase deficiency: a rare cause of endocrine hypertension.
Hermans C, de Plaen JF, de Nayer P, Maiter D. Hermans C, et al. Am J Med Sci. 1996 Sep;312(3):126-9. doi: 10.1097/00000441-199609000-00006. Am J Med Sci. 1996. PMID: 8783679
The combination of hypertension, hypokaliemia, and male pseudohermaphroditism or amenorrhea must prompt a search for a rare adrenal enzymatic defect, 17 alpha-hydroxylase/17,20-lyase deficiency. This is a report of the observation …
The combination of hypertension, hypokaliemia, and male pseudohermaphroditism or amenorrhea must prompt a search for a rare adrenal enzymati …
Ovarian hyperstimulation syndrome with low oestradiol in non-classical 17 alpha-hydroxylase, 17,20-lyase deficiency: what is the role of oestrogens?
Meirow D, Schenker JG, Rosler A. Meirow D, et al. Hum Reprod. 1996 Oct;11(10):2119-21. doi: 10.1093/oxfordjournals.humrep.a019059. Hum Reprod. 1996. PMID: 8943512
Ovarian stimulation in a patient who suffered from partial (non-classical) 17 alpha-hydroxylase 17,20 lyase deficiency of the adrenal cortex and gonads is described. ...
Ovarian stimulation in a patient who suffered from partial (non-classical) 17 alpha-hydroxylase 17,20 …