Associated Papers
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
Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.
Wong YS et al.
Frontiers in Pediatrics, 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
A Patient with Partial 17α-Hydroxylase Deficiency Initially Diagnosed with Asherman Syndrome and Pheochromocytoma.
Yu H et al.
International Heart Journal, 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
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
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
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
Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.
Zhang D et al.
Frontiers in Endocrinology, 2022
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
[Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency].
Zhou DY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency.
Marsh CA et al.
Fertility and Sterility, 2014
Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.
Shi M 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
Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency.
Bee YM et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.
Tian Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
Rare hypertension as a result of 17alpha-hydroxylase deficiency.
Wang W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis.
Li H et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2010
A single amino acid residue, Ala 105, confers 16alpha-hydroxylase activity to human cytochrome P450 17alpha-hydroxylase/17,20 lyase.
Swart AC et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2010
Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency.
Tian Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2009
A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia.
Won GS et al.
Metabolism: Clinical and Experimental, 2007
Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.
Costa-Santos M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
Van Den Akker EL et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.
Gupta MK et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency.
Lam CW et al.
Molecular Genetics and Metabolism, 2001
[Mutation in the promoter region of 21-hydroxylase gene of patients with congenital adrenal hyperplasia].
Zhao Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 1999
[17-alpha-hydroxylase deficiency--a case report].
Kashiwai K et al.
Horumon to Rinsho. Clinical Endocrinology, 1983
[A case of 17 alpha-hydroxylase deficiency with long stature and epileptic cramps (author's transl)].
Ono Y
Horumon to Rinsho. Clinical Endocrinology, 1982