Associated Papers
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 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
17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases.
Willemsen AL et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z et al.
Endocrine, 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
Proteomics, modeling, and fluorescence assays delineate cytochrome b5 residues involved in binding and stimulation of cytochrome P450 17A1 17,20-lyase.
Tateishi Y et al.
The Journal of Biological Chemistry, 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
17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.
Maheshwari M et al.
Journal of the Endocrine Society, 2022
Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency.
Coeli-Lacchini FB et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020
Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.
Kurnaz E et al.
Hormone Research in Paediatrics, 2020
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency.
Chen H et al.
Frontiers in Genetics, 2019
Assisted Reproduction in Congenital Adrenal Hyperplasia.
Chatziaggelou A et al.
Frontiers in Endocrinology, 2019
Three new Brazilian cases of 17α-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features.
Breder ISS et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
Sun M et al.
Discovery Medicine, 2017
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
Fernández-Cancio M et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.
Carvalho LC et al.
Fertility and Sterility, 2016
Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer.
Bianchi PH et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.
Yao F et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013
Rare hypertension as a result of 17alpha-hydroxylase deficiency.
Wang W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
[Genetic mutation analysis of a kindred with a patient suffering from 17 alpha-hydroxylase/17, 20-lyase deficiency].
Chen Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency.
Tian Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 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
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
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
P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
Martin RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003