Associated Papers
Congenital Adrenal Hyperplasia Due to 17-α-hydroxylase Deficiency: A Case Report.
Dos Santos LR et al.
Touchreviews in Endocrinology, 2021
The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
Sun M et al.
European Journal of Endocrinology, 2021
A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site.
Habib A et al.
Human Genome Variation, 2021
Disorders of Sex Development: Classification, Review, and Impact on Fertility.
Acién P et al.
Journal of Clinical Medicine, 2020
Atypical presentation in patients with 17 α-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature.
Bolu S et al.
The Turkish Journal of Pediatrics, 2020
Alternative pathway androgen biosynthesis and human fetal female virilization.
Reisch N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Common variant rs11191548 near the CYP17A1 gene is associated with hypertension and the serum 25(OH) D levels in Han Chinese.
Zhang N et al.
Journal of Human Genetics, 2018
Functional characterization of the G162R and D216H genetic variants of human CYP17A1.
Capper CP et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2018
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 et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.
Turkkahraman D et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015
17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development.
Deeb A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2015
CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.
Wang YP et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim YM et al.
Metabolism: Clinical and Experimental, 2014
Common polymorphism rs11191548 near the CYP17A1 gene is associated with hypertension and systolic blood pressure in the Han Chinese population.
Li X et al.
American Journal of Hypertension, 2013
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.
Idkowiak J et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
Dhir V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
Patocs A et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2005
Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.
Auchus RJ et al.
Molecular Endocrinology (baltimore, Md.), 1999