Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
出版年份 2017 全文链接
标题
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
作者
关键词
-
出版物
HUMAN REPRODUCTION UPDATE
Volume 23, Issue 5, Pages 580-599
出版商
Oxford University Press (OUP)
发表日期
2017-05-12
DOI
10.1093/humupd/dmx014
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS
- (2016) Henrik Falhammar et al. Endocrine Practice
- Neurokinin B Receptor Antagonism in Women With Polycystic Ovary Syndrome: A Randomized, Placebo-Controlled Trial
- (2016) Jyothis T. George et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal Hyperplasia
- (2016) Aikaterini A. Nella et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Sex-Dimorphic Effects of Prenatal Treatment With Dexamethasone
- (2016) Lena Wallensteen et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis
- (2015) Urszula Ambroziak et al. CLINICAL ENDOCRINOLOGY
- Advances in the meta-analysis of heterogeneous clinical trials II: The quality effects model
- (2015) Suhail A.R. Doi et al. Contemporary Clinical Trials
- Infertility and Reproductive Function in Patients with Congenital Adrenal Hyperplasia
- (2015) Oksana Lekarev et al. ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
- Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas
- (2015) B. Kiedrowicz et al. HORMONE AND METABOLIC RESEARCH
- Inadequate Cortisol Response to the Tetracosactide (Synacthen�) Test in Non-Classic Congenital Adrenal Hyperplasia: An Exception to the Rule?
- (2015) Athanasia Stoupa et al. Hormone Research in Paediatrics
- A Phase 2 Study of Chronocort, a Modified-Release Formulation of Hydrocortisone, in the Treatment of Adults With Classic Congenital Adrenal Hyperplasia
- (2015) Ashwini Mallappa et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Cardiovascular Abnormalities and Impaired Exercise Performance in Adolescents With Congenital Adrenal Hyperplasia
- (2015) Alberto M. Marra et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency
- (2015) Adina F. Turcu et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Increased Abdominal Adiposity in Adolescents and Young Adults With Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
- (2015) Mimi S. Kim et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study
- (2015) Henrik Falhammar et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia
- (2015) Pradeep S. Pallan et al. MOLECULAR ENDOCRINOLOGY
- In vitrofunctional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia
- (2014) Michela Barbaro et al. CLINICAL ENDOCRINOLOGY
- The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of theCYP21A2gene
- (2014) S. Livadas et al. CLINICAL ENDOCRINOLOGY
- Abiraterone Acetate to Lower Androgens in Women With Classic 21-Hydroxylase Deficiency
- (2014) Richard J. Auchus et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Increased Mortality in Patients With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- (2014) Henrik Falhammar et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9
- (2014) M. Wasniewska et al. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
- Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene
- (2014) Melisa Taboas et al. PLoS One
- Genetic defects of the CYP21A2 gene in girls with premature adrenarche
- (2014) N. Skordis et al. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
- Functional consequences of a novel point mutation in the CYP21A2 gene identified in a Chinese Han patient with nonclassic 21-hydroxylase deficiency
- (2013) Xiaojing Chu et al. CLINICAL ENDOCRINOLOGY
- Fertility in patients with congenital adrenal hyperplasia
- (2013) David E. Reichman et al. FERTILITY AND STERILITY
- CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
- (2013) V. Moura-Massari et al. HORMONE AND METABOLIC RESEARCH
- Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia
- (2013) S. Haider et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
- (2013) M. I. New et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Non-classic congenital adrenal hyperplasia
- (2013) Selma Feldman Witchel STEROIDS
- Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia
- (2012) Gabriela P. Finkielstain et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency
- (2011) W. Chen et al. CLINICAL CHEMISTRY
- Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia
- (2011) Roxana Marino et al. CLINICAL ENDOCRINOLOGY
- Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
- (2011) Radha Nandagopal et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia
- (2011) Henrik Falhammar et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Epidemiology, diagnosis and management of hirsutism: a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome Society
- (2011) H.F. Escobar-Morreale et al. HUMAN REPRODUCTION UPDATE
- A Longitudinal Study of Plasma and Urinary Cortisol in Pregnancy and Postpartum
- (2011) Caroline Jung et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Approach to the Girl with Early Onset of Pubic Hair
- (2011) Sharon E. Oberfield et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Increased Activation of the Alternative “Backdoor” Pathway in Patients with 21-Hydroxylase Deficiency: Evidence from Urinary Steroid Hormone Analysis
- (2011) Clemens Kamrath et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients
- (2011) Carolina Minutolo et al. PLoS One
- Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
- (2011) Christine M. Trapp et al. STEROIDS
- Detection and management of late-onset 21-hydroxylase deficiency in women with hyperandrogenism
- (2010) J. Young et al. ANNALES D ENDOCRINOLOGIE
- Androgenetic alopecia in the paediatric population: a retrospective review of 57 patients
- (2010) M. E. Gonzalez et al. BRITISH JOURNAL OF DERMATOLOGY
- The prevalence of non-classic adrenal hyperplasia among Turkish women with hyperandrogenism
- (2010) Kursad Unluhizarci et al. GYNECOLOGICAL ENDOCRINOLOGY
- Glucocorticoids, prenatal stress and the programming of disease
- (2010) Anjanette Harris et al. HORMONES AND BEHAVIOR
- Phenotype-Genotype Correlations of 13 Rare CYP21A2 Mutations Detected in 46 Patients Affected with 21-Hydroxylase Deficiency and in One Carrier
- (2010) V. Tardy et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Assessment of Cardiovascular Risk and Prevention of Cardiovascular Disease in Women with the Polycystic Ovary Syndrome: A Consensus Statement by the Androgen Excess and Polycystic Ovary Syndrome (AE-PCOS) Society
- (2010) Robert A. Wild et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Fertility in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
- (2010) Maud Bidet et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline
- (2010) Phyllis W. Speiser et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Hirsutism in Saudi females of reproductive age : A hospital-based study
- (2009) AtallahD Al-Ruhaily et al. ANNALS OF SAUDI MEDICINE
- Non-classical 21-hydroxylase deficiency: prevalence in males with unexplained abnormal sperm analysis
- (2009) Haim Pinkas et al. FERTILITY AND STERILITY
- High prevalence of polycystic ovary syndrome in women with mild hirsutism and no other significant clinical symptoms
- (2009) Gaetana Di Fede et al. FERTILITY AND STERILITY
- The phenotype of hirsute women: a comparison of polycystic ovary syndrome and 21-hydroxylase–deficient nonclassic adrenal hyperplasia
- (2009) Marita Pall et al. FERTILITY AND STERILITY
- Two novelCYP21A2missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation
- (2009) Paola Concolino et al. IUBMB LIFE
- Precocious Pubarche: Distinguishing Late-Onset Congenital Adrenal Hyperplasia from Premature Adrenarche
- (2009) Jean-Baptiste Armengaud et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Clinical and Molecular Characterization of a Cohort of 161 Unrelated Women with Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and 330 Family Members
- (2009) Maud Bidet et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Cardiovascular Disease Risk in Adult Women with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- (2009) Mimi Kim et al. SEMINARS IN REPRODUCTIVE MEDICINE
- Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement
- (2009) David Moher et al. PLOS MEDICINE
- Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia
- (2008) Paola Concolino et al. CLINICAL ENDOCRINOLOGY
- The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report
- (2008) Ricardo Azziz et al. FERTILITY AND STERILITY
- Prevalence of nonclassic adrenal hyperplasia (NCAH) in hyperandrogenic women
- (2008) Michael Fanta et al. GYNECOLOGICAL ENDOCRINOLOGY
- Functional characterization of threeCYP21A2sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system
- (2008) Caroline Bleicken et al. HUMAN MUTATION
- Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients
- (2008) F. C. Soardi et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Functional and Structural Consequences of a Novel Point Mutation in theCYP21A2Gene Causing Congenital Adrenal Hyperplasia: Potential Relevance of Helix C for P450 Oxidoreductase-21-Hydroxylase Interaction
- (2008) Felix G. Riepe et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Steroid measurement with LC–MS/MS in pediatric endocrinology
- (2008) Manfred Rauh MOLECULAR AND CELLULAR ENDOCRINOLOGY
- High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency
- (2008) Silvia Parajes et al. PLoS One
- A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs
- (2007) Héctor F. Escobar-Morreale et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now