Associated Papers
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
Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.
Wang X et al.
International Journal of Neonatal Screening, 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
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
A Chinese girl with delayed puberty due to 17α-hydroxylase deficiency: the diagnosis, treatment and monitoring approach.
Yu GCF et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2023
Refractory hypokalemia with sexual dysplasia and infertility caused by 17α-hydroxylase deficiency and triple X syndrome: A case report.
Yao JT et al.
Open Life Sciences, 2023
17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.
Han LH et al.
Clinical Case Reports, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Reproductive endocrine characteristics and in vitro fertilization treatment of female patients with partial 17α-hydroxylase deficiency: Two pedigree investigations and a literature review.
Jiang S et al.
Frontiers in Endocrinology, 2022
Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.
Zhang D et al.
Frontiers in Endocrinology, 2022
Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.
Shen J et al.
Journal of Assisted Reproduction and Genetics, 2021
[Analysis of CYP17A1 gene variants in 5 patients with 17-hydroxylase deficiency].
Zheng R et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia.
Liu Q et al.
Endocrine Connections, 2018
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations
Kardelen AD et al.
Journal of Clinical Research in Pediatric Endocrinology, 2018
A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.
Camats N et al.
Clinical Case Reports, 2015
Clinical characteristics and mutation analysis of two Chinese children with 17a-hydroxylase/17,20-lyase deficiency.
Zhu Z et al.
International Journal of Clinical and Experimental Medicine, 2015
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
[Clinical characteristics of 17alpha-hydroxylase/17,20-lyase deficiency and long term follow up results].
Tao H et al.
Zhonghua Nei Ke Za Zhi, 2005
A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes.
Dai LZ et al.
Women's Health (london, England), 0