Associated Papers
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Cavarzere P et al.
Journal of Endocrinological Investigation, 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
Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China
Li Y et al.
Journal of Clinical Research in Pediatric Endocrinology, 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
17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases.
Willemsen AL et al.
The Journal of Clinical Endocrinology and Metabolism, 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 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
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
Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.
Bruzas S et al.
Cancers, 2021
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.
Bao M et al.
Journal of Medical Genetics, 2020
Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency.
Asirvatham AR et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
Three new Brazilian cases of 17α-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features.
Breder ISS et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
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
Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.
Bulsari K et al.
Hormones (athens, Greece), 2018
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population.
Alswailem MM et al.
Molecular and Cellular Endocrinology, 2018
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
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.
Auchus RJ
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
Fernández-Cancio M et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.
Carvalho LC et al.
Fertility and Sterility, 2016
A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.
Camats N et al.
Clinical Case Reports, 2015
Genetics of premature ovarian failure.
Bilgin EM et al.
Current Opinion in Obstetrics & Gynecology, 2015
Clinical and molecular review of atypical congenital adrenal hyperplasia.
Sahakitrungruang T
Annals of Pediatric Endocrinology & Metabolism, 2015
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
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim YM et al.
Metabolism: Clinical and Experimental, 2014
Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation.
Escamilla-Márquez MA et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
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
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population.
Bao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Rare hypertension as a result of 17alpha-hydroxylase deficiency.
Wang W et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.
Neres MS et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil.
Belgini DR et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.
Qiao J et al.
Clinical Endocrinology, 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
Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.
Nájera N et al.
Endocrine Pathology, 2009
[A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].
Liang J et al.
Zhonghua Nei Ke Za Zhi, 2008
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
17-Hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: laboratory and molecular diagnosis--a case report.
Benetti-Pinto CL et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2007
Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.
Ergun-Longmire B et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
Yang J et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
Brooke AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Miscellaneous endocrine causes of hypertension.
Auchus RJ
Current Cardiology Reports, 2005
Steroid 17alpha-hydroxylase deficiency--not rare everywhere.
Miller WL
The Journal of Clinical Endocrinology and Metabolism, 2004
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
P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
Martin RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
[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