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
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
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
Successful Treatment of Infertility in a Patient with Probable 17 Hydroxylase Deficiency and Particularities of Association with Adrenal Autoimmunity-A Case Report and Review of the Literature.
Albu AI et al.
Life (basel, Switzerland), 2023
Transcriptomic signatures for human male infertility.
Hodžić A et al.
Frontiers in Molecular Biosciences, 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
Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.
Miclea D et al.
Diagnostics (basel, Switzerland), 2021
Mechanism of the Clinically Relevant E305G Mutation in Human P450 CYP17A1.
Liu Y et al.
Biochemistry, 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
Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report.
Ammar R et al.
Oxford Medical Case Reports, 2020
A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report.
Nazari M et al.
International Journal of Reproductive Biomedicine, 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
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
Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
Rubtsov P et al.
European Journal of Endocrinology, 2015
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
17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene.
Petri C et al.
Hormone Research in Paediatrics, 2014
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
A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.
Qiao J et al.
European Journal of Endocrinology, 2011
Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome.
Ghayee HK et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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 P450c17 mutation H373D causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
Sahakitrungruang T et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair.
Turan S et al.
European Journal of Endocrinology, 2009
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
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
A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
Brooke AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Human cytochrome b5 requires residues E48 and E49 to stimulate the 17,20-lyase activity of cytochrome P450c17.
Naffin-Olivos JL et al.
Biochemistry, 2006
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
Sherbet DP et al.
The Journal of Biological Chemistry, 2003