Cargando…

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

CONTEXT: Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disord...

Descripción completa

Detalles Bibliográficos
Autores principales:	Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A., Ivison, Hannah E., Abdul-Rahman, Omar A., Hendon, Laura G., Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M., Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L., Arlt, Wiebke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2013
Materias:	JCEM Online: Advances in Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708032/ https://www.ncbi.nlm.nih.gov/pubmed/23365120 http://dx.doi.org/10.1210/jc.2012-3449

Ejemplares similares

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
por: Krone, Nils, et al.
Publicado: (2012)

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
por: Idkowiak, Jan, et al.
Publicado: (2011)

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency
por: Idkowiak, Jan, et al.
Publicado: (2012)

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
por: Krone, Nils, et al.
Publicado: (2013)

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
por: Tomalik-Scharte, Dorota, et al.
Publicado: (2010)

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche
por: Idkowiak, Jan, et al.
Publicado: (2010)

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations
por: Oostdijk, Wilma, et al.
Publicado: (2015)

Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency
por: Reisch, Nicole, et al.
Publicado: (2020)

Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry
por: Cox, Kathryn, et al.
Publicado: (2014)

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
por: Zhang, Jin, et al.
Publicado: (2022)

Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia
por: Jones, Christopher M., et al.
Publicado: (2016)

Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome
por: Deal, Cheri L., et al.
Publicado: (2013)

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency
por: Bonamichi, Beatriz D. S. F., et al.
Publicado: (2016)

Genetically Determined Dosage of Follicle-Stimulating Hormone (FSH) Affects Male Reproductive Parameters
por: Grigorova, Marina, et al.
Publicado: (2011)

Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia
por: McCabe, Mark J., et al.
Publicado: (2013)

Adipose Tissue Resting Energy Expenditure and Expression of Genes Involved in Mitochondrial Function Are Higher in Women than in Men
por: Nookaew, Intawat, et al.
Publicado: (2013)

A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia
por: Schoenmakers, Nadia, et al.
Publicado: (2014)

Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)
por: Prasad, Rathi, et al.
Publicado: (2014)

Telomerase-Dependent and Independent Telomere Maintenance and its Clinical Implications in Medullary Thyroid Carcinoma
por: Wang, Na, et al.
Publicado: (2014)

Comparisons of Immunoassay and Mass Spectrometry Measurements of Serum Estradiol Levels and Their Influence on Clinical Association Studies in Men
por: Ohlsson, Claes, et al.
Publicado: (2013)

Structural Pituitary Abnormalities Associated With CHARGE Syndrome
por: Gregory, Louise C., et al.
Publicado: (2013)

Genetic and Epigenetic Modulation of Growth Hormone Sensitivity Studied With the IGF-1 Generation Test
por: Ouni, Meriem, et al.
Publicado: (2015)

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers
por: Hernández-Ramírez, Laura C., et al.
Publicado: (2015)

NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency
por: Novoselova, Tatiana V., et al.
Publicado: (2015)

Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome
por: Paisey, Richard B., et al.
Publicado: (2015)

Obesity-Associated Melanocortin-4 Receptor Mutations Are Associated With Changes in the Brain Response to Food Cues
por: van der Klaauw, Agatha A., et al.
Publicado: (2014)

Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort
por: Dénes, Judit, et al.
Publicado: (2015)

Expanding the Clinical Spectrum Associated With GLIS3 Mutations
por: Dimitri, P., et al.
Publicado: (2015)

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)
por: Parajes, Silvia, et al.
Publicado: (2012)

Higher Levels of IGF-I and Adrenal Androgens at Age 8 Years Are Associated with Earlier Age at Menarche in Girls
por: Thankamony, Ajay, et al.
Publicado: (2012)

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)
por: Han, Thang S, et al.
Publicado: (2013)

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype
por: Wang, Chunqing, et al.
Publicado: (2023)

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism
por: Storbeck, Karl-Heinz, et al.
Publicado: (2019)

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia
por: Merke, Deborah P, et al.
Publicado: (2021)

Alternative pathway androgen biosynthesis and human fetal female virilization
por: Reisch, Nicole, et al.
Publicado: (2019)

Pharmacogenomics of human P450 oxidoreductase
por: Pandey, Amit V., et al.
Publicado: (2014)

Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)()
por: Krone, Nils, et al.
Publicado: (2010)

Block and Replace—a New Therapeutic Concept in Congenital Adrenal Hyperplasia?
por: Reisch, Nicole
Publicado: (2021)

Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients
por: Arlt, Wiebke, et al.
Publicado: (2010)

Quantitative Brain MRI in Congenital Adrenal Hyperplasia: In Vivo Assessment of the Cognitive and Structural Impact of Steroid Hormones
por: Webb, Emma A, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_abqnkgt8lgpvkdonv5g61p65i7