Associated Papers
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z et al.
Endocrine, 2024
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
Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report.
Gong Y et al.
World Journal of Clinical Cases, 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
Multidisciplinary team management of 46,XY 17α-hydroxylase deficiency: a case report and literature review.
Zhou Y et al.
The Journal of International Medical Research, 2021
Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH).
Dai W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.
Unal E et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2020
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
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
17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene.
Keskin M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
[Diagnosis and treatment of 17 alpha-hydroxylase deficiency: a case report and literature review].
Zhang L et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2008