Associated Papers
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Cavarzere P et al.
Journal of Endocrinological Investigation, 2025
Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.
Chai Q et al.
Journal of Assisted Reproduction and Genetics, 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
Novel estrogen-related gene variants identified by whole-exome sequencing in pregnancy-associated intrahepatic cholestasis.
Lai H et al.
Frontiers in Genetics, 2025
Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B et al.
Clinical Endocrinology, 2024
Successful Pregnancy in Isolated 17,20-lyase Deficiency Without Glucocorticoid Use or Assisted Reproduction Techniques.
de Oliveira JM et al.
Jcem Case Reports, 2024
A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency.
Saltarelli MA et al.
International Journal of Environmental Research and Public Health, 2022
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
Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency.
Yamagata S et al.
Endocrine Journal, 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
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Lee WS et al.
Scientific Reports, 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
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
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
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
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population.
Bao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Human cytochrome p450c17: single step purification and phosphorylation of serine 258 by protein kinase a.
Wang YH et al.
Endocrinology, 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
Novel P450c17 mutation H373D causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
Sahakitrungruang T et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
[An associated analysis of estrogen receptor 2 gene polymorphism linked with intrahepatic cholestasis of pregnancy].
Zhang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia.
Flück CE et al.
Current Opinion in Pediatrics, 2006
Structural motif-based homology modeling of CYP27A1 and site-directed mutational analyses affecting vitamin D hydroxylation.
Prosser DE et al.
Biophysical Journal, 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