Associated Papers
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
A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.
Beştaş A et al.
Endocrine, 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
[Clinical characteristics and CYP17A1 gene mutation analysis in patients with 17α-hydroxylase/17, 20-lyase deficiency and testicular tumor].
Han BB et al.
Zhonghua Nei Ke Za Zhi, 2021
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
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
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