Associated Papers
Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation.
Lee HI et al.
Annals of Pediatric Endocrinology & Metabolism, 2021
Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells.
Costa-Santos M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
Martin RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
Di Cerbo A et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency.
Katsumata N et al.
Hormone Research, 2001
17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
Biason-Lauber A et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.
Stratakis CA et al.
Critical Reviews in Clinical Laboratory Sciences, 1999
A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.
Adachi M et al.
Endocrine Journal, 1999
A new compound heterozygous mutation (W17X, 436 + 5G --> T) in the cytochrome P450c17 gene causes 17 alpha-hydroxylase/17,20-lyase deficiency.
Suzuki Y et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
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