Associated Papers
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Cavarzere P et al.
Journal of Endocrinological Investigation, 2025
17α-hydroxylase deficiency with a novel CYP17A1 mutation: a case report.
Li JB et al.
Translational Pediatrics, 2025
The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus.
Ding L et al.
Orphanet Journal of Rare Diseases, 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
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 secondary hypertension caused by compound heterozygous CYP17A1 mutations: a case report.
Sun J et al.
European Heart Journal. Case Reports, 2024
Full-term live birth in a woman with 17α-hydroxylase and 17,20-lyase deficiency with assisted reproductive technology: a case report.
Xi S et al.
Bmc Women's Health, 2023
Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study.
Pan P et al.
Journal of Ovarian Research, 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
Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review.
Yin M et al.
Frontiers in Endocrinology, 2022
Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population.
Xia J et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2021
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.
Bao M et al.
Journal of Medical Genetics, 2020
[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
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis.
Papi G et al.
Case Reports in Endocrinology, 2018
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.
Kim JH et al.
Molecular and Cellular Endocrinology, 2017
Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor.
Lee SJ et al.
Endocrinology and Metabolism (seoul, Korea), 2015
New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.
Zhang M et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2015