A male twin infant with skull deformity and elevated neonatal 17-hydroxyprogesterone: a prismatic case of P450 oxidoreductase deficiency

Keyphrases

• Sequence Analysis 100%
• Congenital Adrenal Hyperplasia 100%
• Twin Infants 100%
• 17-hydroxyprogesterone (17-OHP) 100%
• Skull Deformity 100%
• P450 Oxidoreductase Deficiency 100%
• Steroid Metabolome 66%
• Twin Sister 66%
• Antley-Bixler Syndrome 66%
• Gas Chromatography-mass Spectrometry 33%
• Clinical Features 33%
• Neonatal Screening 33%
• Metabolic 33%
• Glucocorticoid Sensitivity 33%
• During Pregnancy 33%
• Fibroblast Growth Factor Receptor 2 (FGFR2) 33%
• Gas Chromatography-mass Spectrometry Analysis 33%
• Lower Sets 33%
• Amino Acid Exchange 33%
• Homozygous mutation 33%
• Oxidoreductase 33%
• Cortisol Reactivity 33%
• Virilization 33%
• 17α-Hydroxylase 33%
• Turret 33%
• Frontal Bossing 33%
• Short Synacthen Test 33%
• 21-hydroxylase 33%
• Cytochrome P450 Reductase 33%
• Maternal Virilization 33%
• Anterior Fontanelle 33%
• Urinary Steroid Profile 33%
• Ambiguous Genitalia 33%
• Pattern of Malformation 33%
• P21 Gene 33%
• Spot Urine 33%
• Male Genitalia 33%
• Endocrine Abnormalities 33%
• Feminization 33%
• Hydrocortisone Replacement 33%
• Arachnodactyly 33%

Medicine and Dentistry

• Hydroxyprogesterone 100%
• P450 Oxidoreductase Deficiency 100%
• Skull Malformation 100%
• Congenital Adrenal Hyperplasia 100%
• Hydrocortisone 66%
• Gas Chromatography Mass Spectrometry 66%
• Metabolome 66%
• Antley-Bixler Syndrome 66%
• Urinary System 33%
• Amino Acid 33%
• Oxidoreductase 33%
• Glucocorticoid 33%
• Clinical Feature 33%
• Somatics 33%
• Newborn Screening 33%
• Sequence Analysis 33%
• Protein Sequencing 33%
• Congenital Malformation 33%
• 21-Hydroxylase 33%
• Cytochrome P450 Family 21 33%
• Arachnodactyly 33%
• Tetracosactide 33%
• Frontal Bossing 33%
• Fibroblast Growth Factor Receptor 2 33%
• Steroid 17alpha Monooxygenase 33%
• Ambiguous Genitalia 33%
• Cardiopulmonary Resuscitation 33%
• Virilization 33%
• Feminization 33%
• Cytochrome P450 Reductase 33%
• Gonadal Disease 33%

Biochemistry, Genetics and Molecular Biology

• Cytochrome P450 Reductase 100%
• 17-Hydroxyprogesterone 100%
• Cortisol 50%
• Gas Chromatography-Mass Spectrometry 50%
• Virilization 50%
• Metabolome 50%
• Amino Acids 25%
• Oxidoreductase 25%
• Glucocorticoid 25%
• Protein Sequencing 25%
• Oxygenase 25%
• Fibroblast Growth Factor Receptor 2 25%
• Shotgun Sequencing 25%
• Newborn Screening 25%
• Tetracosactide 25%
• 21-Hydroxylase 25%
• Steroid Urine Level 25%
• Cosyntropin 25%