EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

Prenatal genetic testing and treatment for congenital adrenal hyperplasia

(2019) Joe Leigh Simpson et al.   FERTILITY AND STERILITY

Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene

(2018) Paola Concolino et al.   Molecular Diagnosis & Therapy

MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment

(2017) Anne Bachelot et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

(2017) Leandro Simonetti et al.   HUMAN MUTATION

Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

(2017) Alan A. Parsa et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

CYP21A2 intronic variants causing 21-hydroxylase deficiency

(2017) Paola Concolino et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

(2017) Vassos Neocleous et al.   International Journal of Endocrinology

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

(2017) Ronak Y. Patel et al.   Genome Medicine

Prenatal Diagnosis of Congenital Adrenal Hyperplasia

(2016) Mabel Yau et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

MolecularCYP21A2diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction

(2016) Daniel F de Carvalho et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations

(2016) Ruifang Wang et al.   STEROIDS

Novel treatment strategies in congenital adrenal hyperplasia

(2016) Adina F. Turcu et al.   Current Opinion in Endocrinology Diabetes and Obesity

Functional and Structural Consequences of NineCYP21A2Mutations Ranging from Very Mild to Severe Effects

(2016) Débora de Paula Michelatto et al.   International Journal of Endocrinology

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

(2016) Carlos D. Bruque et al.   Scientific Reports

Fetal endocrine therapy for congenital adrenal hyperplasia should not be done

(2015) Walter L. Miller   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Current and novel approaches to children and young people with congenital adrenal hyperplasia and adrenal insufficiency

(2015) Emma A. Webb et al.   BEST PRACTICE & RESEARCH 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

LC–MS/MS based determination of basal- and ACTH-stimulated plasma concentrations of 11 steroid hormones: implications for detecting heterozygoteCYP21A2mutation carriers

(2015) A E Kulle et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Health-Related Quality of Life in Children with Congenital Adrenal Hyperplasia

(2015) Mabel Yau et al.   Hormone Research in Paediatrics

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

CYP21A2Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

(2015) Geehay Hong et al.   Annals of Laboratory Medicine

Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations

(2015) I. Milacic et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients

(2014) Deniz Kirac et al.   ANNALS OF HUMAN GENETICS

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

Unexplained infertility: increased risk for 21-hydroxylase-deficiency in parents and offspring?

(2014) Sabina Baumgartner-Parzer et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011)

(2014) Véronique Tardy-Guidollet et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

(2014) Maria I. New et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation

(2014) H. Falhammar et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

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 studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia

(2014) Ingeborg Brønstad et al.   Endocrine Connections

17-Hydroxyprogesterone in children, adolescents and adults

(2014) John W Honour   ANNALS OF CLINICAL BIOCHEMISTRY

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

CYP21A2 p.E238 Deletion as Result of Multiple Microconversion Events

(2013) Paola Concolino et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort

(2013) Nils Krone et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone

(2012) Stefan Németh et al.   CLINICA CHIMICA ACTA

Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency

(2012) Ingrid Nermoen et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation

(2012) Bayram Toraman et al.   GENE

Analysis of the CYP21A1P pseudogene: Indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes

(2011) Li-Ping Tsai et al.   ANALYTICAL BIOCHEMISTRY

Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics

(2011) P. Concolino 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

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

(2011) Michela Barbaro et al.   CLINICAL ENDOCRINOLOGY

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche

(2011) Lucia Ghizzoni et al.   EUROPEAN JOURNAL OF 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

Infertility reversed by glucocorticoids and full-term pregnancy in a couple with previously undiagnosed nonclassic congenital adrenal hyperplasia

(2011) Eftihios Trakakis et al.   FERTILITY AND STERILITY

Molecular Characterization of 25 Chinese Pedigrees with 21-Hydroxylase Deficiency

(2011) Yongguo Yu et al.   Genetic Testing and Molecular Biomarkers

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients

(2011) Paola Concolino et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

(2011) Carolina Minutolo et al.   PLoS One

Sequence Analysis of CYP21A1P in a German Population to Aid in the Molecular Biological Diagnosis of Congenital Adrenal Hyperplasia

(2010) C. Canturk et al.   CLINICAL CHEMISTRY

A standardized framework for the validation and verification of clinical molecular genetic tests

(2010) Christopher J Mattocks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The prevalence of non-classic adrenal hyperplasia among Turkish women with hyperandrogenism

(2010) Kursad Unluhizarci et al.   GYNECOLOGICAL ENDOCRINOLOGY

Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers

(2010) Françoise Paris et al.   GYNECOLOGICAL ENDOCRINOLOGY

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

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

Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

(2010) Gabriela P. Finkielstain et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel intronic CYP21A2 mutation in a Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency

(2010) Noriyuki Katsumata et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

(2009) Paola Concolino et al.   BMC Medical Genetics

Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report

(2009) Paola Concolino et al.   CLINICA CHIMICA ACTA

Molecular analysis ofCYP21A2can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia

(2009) EL Silveira et al.   CLINICAL GENETICS

Two novelCYP21A2missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation

(2009) Paola Concolino et al.   IUBMB LIFE

Duplications of the FunctionalCYP21A2Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect

(2009) S. Kleinle 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

Variations in the promoter ofCYP21A2gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency

(2008) Hui-Jie Zhang et al.   CLINICAL ENDOCRINOLOGY

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Functional characterization of threeCYP21A2sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system

(2008) Caroline Bleicken et al.   HUMAN MUTATION

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

p.H62L, a Rare Mutation of the CYP21 Gene Identified in Two Forms of 21-Hydroxylase Deficiency

(2008) R. Menassa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

Fast and direct quantification of adrenal steroids by tandem mass spectrometry in serum and dried blood spots

(2007) Nils Janzen et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES