Associated Papers
46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.
Kawashima S et al.
Endocrine Journal, 2025
17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.
Ikeya A et al.
Internal Medicine (tokyo, Japan), 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
Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.
Rashmi KG et al.
Journal of the Asean Federation of Endocrine Societies, 2023
An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report.
Ishinoda Y et al.
Bmc Endocrine Disorders, 2022
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
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
The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.
Sun M et al.
European Journal of Endocrinology, 2021
Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report.
Mikami Y et al.
Journal of Medical Case Reports, 2019
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency.
Mo EY et al.
Endocrinology and Metabolism (seoul, Korea), 2018
Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency.
Croxson M et al.
The New Zealand Medical Journal, 2012
[17alpha-hydroxylase/17,20lyase deficiency].
Noguchi K
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
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