Associated Papers
Letter by Kim Regarding Article, "A Patient with Partial 17α-Hydroxylase Deficiency Initially Diagnosed with Asherman Syndrome and Pheochromocytoma".
Kim HJ
International Heart Journal, 2025
17α-hydroxylase deficiency with a novel CYP17A1 mutation: a case report.
Li JB et al.
Translational Pediatrics, 2025
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
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
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
Rare secondary hypertension caused by compound heterozygous CYP17A1 mutations: a case report.
Sun J et al.
European Heart Journal. Case Reports, 2024
Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.
Zhang Y et al.
Medicine, 2023
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, genetic, and pathological analysis in 165 children with disorders of sex development].
Cao YY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
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
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
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
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
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Liu Y et al.
Clinical Chemistry, 2022
17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.
Han LH et al.
Clinical Case Reports, 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
Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.
Lu L et al.
Frontiers in Pediatrics, 2022
Case report: 17α- hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients.
Li J et al.
Frontiers in Pediatrics, 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 characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.
Zhang D et al.
Frontiers in Endocrinology, 2022
Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants.
Xia J et al.
The Journal of Obstetrics and Gynaecology Research, 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
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
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
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
Flash glucose monitoring system was applied to cortisol treatment for a patient with congenital adrenal hyperplasia and 17α-hydroxylase deficiency.
Xiang C et al.
Bmc Endocrine Disorders, 2020
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
A new compound heterozygous mutation in a female with 17α-hydroxylase/17,20-lyase deficiency, slipped capital femoral epiphysis, and adrenal myelolipoma.
Yang F et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2019
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
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
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
Combined 17α-hydroxylase/17,20-lyase deficiency with short stature: case study.
Ma L et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2016
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
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 gene mutations and hypertension variations found in 46, XY females with combined 17α-hydroxylase/17, 20-lyase deficiency.
Wang YP et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014
Identifying a novel mutation of CYP17A1 gene from five Chinese 17α-hydroxylase/17, 20-lyase deficiency patients.
Han B et al.
Gene, 2013
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
Identification of a novel mutation in CYP17A1 gene.
Xue LQ et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2013
A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17{alpha}-hydroxylase deficiency.
Qiao J et al.
European Journal of Endocrinology, 2011
[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
Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing.
Yu BQ et al.
Asian Journal of Andrology, 0