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
Novel estrogen-related gene variants identified by whole-exome sequencing in pregnancy-associated intrahepatic cholestasis.
Lai H et al.
Frontiers in Genetics, 2025
Bilateral breast nodules as an unusual manifestation of 17α-hydroxylase/17,20-lyase deficiency.
Zhang M et al.
Frontiers in Endocrinology, 2025
CYP17A1 Pathogenic Variants in 26 Chinese Patients With 17α-Hydroxylase Deficiency by Targeted Long-Read Sequencing.
Cao Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B et al.
Clinical Endocrinology, 2024
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z et al.
Endocrine, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 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
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
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
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
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
Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.
Shi M et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014
The syndrome of 17,20 lyase deficiency.
Miller WL
The Journal of Clinical Endocrinology and Metabolism, 2012
[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
[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
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
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding.
Sherbet DP et al.
The Journal of Biological Chemistry, 2003
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
Van Den Akker EL et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyase deficiency.
Auchus RJ et al.
Endocrine Research, 2002