Associated Papers
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Cavarzere P et al.
Journal of Endocrinological Investigation, 2025
Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China
Li Y et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review.
Hou Z et al.
Journal of Assisted Reproduction and Genetics, 2025
Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature.
Batatinha JAP et al.
Frontiers in Genetics, 2025
Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B et al.
Clinical Endocrinology, 2024
A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
Chen H et al.
Blood Pressure, 2023
Phenotypic Heterogeneity and Fertility Potential of Patients With 17-Hydroxylase/17,20-lyase Deficiency.
Xu Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.
Zhang D et al.
Frontiers in Endocrinology, 2022
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
Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.
Sousa Paredes SC et al.
Bmj Case Reports, 2019
Etiology of primary adrenal insufficiency in children: a 29-year single-center experience.
Wijaya M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.
Mo EY et al.
Endocrinology and Metabolism (seoul, Korea), 2018
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.
Fernández-Cancio M et al.
Pharmaceuticals (basel, Switzerland), 2018
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female.
Lanzolla G et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2017
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
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Auchus RJ
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Cytochrome b5 Activates the 17,20-Lyase Activity of Human Cytochrome P450 17A1 by Increasing the Coupling of NADPH Consumption to Androgen Production.
Peng HM et al.
Biochemistry, 2016
Catalytically relevant electrostatic interactions of cytochrome P450c17 (CYP17A1) and cytochrome b5.
Peng HM et al.
The Journal of Biological Chemistry, 2014
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Marsh CA et al.
Fertility and Sterility, 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
Cytochromes p450: roles in diseases.
Pikuleva IA et al.
The Journal of Biological Chemistry, 2013
Substrate-modulated cytochrome P450 17A1 and cytochrome b5 interactions revealed by NMR.
Estrada DF et al.
The Journal of Biological Chemistry, 2013
The action of cytochrome b(5) on CYP2E1 and CYP2C19 activities requires anionic residues D58 and D65.
Peng HM et al.
Biochemistry, 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
The syndrome of 17,20 lyase deficiency.
Miller WL
The Journal of Clinical Endocrinology and Metabolism, 2012
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency.
Hwang DY et al.
Plos One, 2011
Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.
Neres MS et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.
Kok RC et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
Rosa S et al.
Hormone Research in Paediatrics, 2010
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
Hershkovitz E et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Two CYP17 genes in the South African Angora goat (Capra hircus) - the identification of three genotypes that differ in copy number and steroidogenic output.
Storbeck KH et al.
The Febs Journal, 2008
[A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].
Liang J et al.
Zhonghua Nei Ke Za Zhi, 2008
Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.
Tiosano D et al.
European Journal of Endocrinology, 2008
Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.
Bhangoo A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.
Dhir V et al.
Molecular Endocrinology (baltimore, Md.), 2007
P450c17 deficiency: clinical and molecular characterization of six patients.
Rosa S et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
The identification of two CYP17 alleles in the South African Angora goat.
Storbeck KH et al.
Drug Metabolism Reviews, 2007
[New mutation in the CYP17 gene: description of a case].
Dzeranova LK et al.
Problemy Endokrinologii, 2006
Mutagenesis of putative serine-threonine phosphorylation sites proximal to Arg255 of human cytochrome P450c17 does not selectively promote its 17,20-lyase activity.
Souter I et al.
Fertility and Sterility, 2006
Identification of a single nucleotide polymorphism in porcine testis cytochrome P450-c17 (CYP17) and its effect on steroidogenesis.
Lin Z et al.
Biochemical Genetics, 2005
Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman.
Taniyama M et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty.
Simsek E et al.
Fertility and Sterility, 2005
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.
Schwab KO et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005
Deficiency of 17,20-lyase causing giant ovarian cysts in a girl and a female phenotype in her 46,XY sister: case report.
ten Kate-Booij MJ et al.
Human Reproduction (oxford, England), 2004
Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.
Costa-Santos M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
Sherbet DP et al.
The Journal of Biological Chemistry, 2003