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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. ...Karyotype identi …
OBJECTIVE: 17 alpha-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare recessive heredi …
Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR. Yanase T, et al. J Biol Chem. 1989 Oct 25;264(30):18076-82. J Biol Chem. 1989. PMID: 2808364 Free article.
Human mutants having these deficiencies represent an excellent source of material for investigation of P-450(17 alpha) structure-function relationships. The CYP17 gene from an individual having partial combined 17 alpha-hydroxylase/17,20-lyas …
Human mutants having these deficiencies represent an excellent source of material for investigation of P-450(17 alpha) structure-function 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 …
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling.
Martin RM, Oliveira PS, Costa EM, Arnhold IJ, Mendonca BB. Martin RM, et al. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1317-20. doi: 10.1590/s0004-27302008000800018. Arq Bras Endocrinol Metabol. 2008. PMID: 19169487
Therefore we expanded the repertoire of CYP17 mutations describing the largest duplication found in this gene in both sisters, with a clinical phenotype of combined 17alpha-hydroxylase/17,20-lyase deficiency and emphasizes the importance of the P450c 17 molecular modeling to p …
Therefore we expanded the repertoire of CYP17 mutations describing the largest duplication found in this gene in both sisters, with a clinic …
Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Imai T, Globerman H, Gertner JM, Kagawa N, Waterman MR. Imai T, et al. J Biol Chem. 1993 Sep 15;268(26):19681-9. J Biol Chem. 1993. PMID: 8396144 Free article.
This system was utilized to study the molecular basis of a novel form of combined 17 alpha-hydroxylase, 17,20-lyase deficiency resulting from compound heterozygous mutations, a missense point mutation Tyr64(TAT)--> Ser (TCT), an …
This system was utilized to study the molecular basis of a novel form of combined 17 alpha-hydroxylase, 17,20 …
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 observati …
The combination of hypertension, hypokaliemia, and male pseudohermaphroditism or amenorrhea must prompt a search for a rare adrenal enzymati …