AIMC Topic: Adrenal Hyperplasia, Congenital

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Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning.

JAMA network open Nov 2, 2020
IMPORTANCE: Congenital adrenal hyperplasia (CAH) is the most common primary adrenal insufficiency in children, involving excess androgens secondary to disrupted steroidogenesis as early as the seventh gestational week of life. Although structural bra...
Cross-Sectional Studies Male Young Adult Adult Child, Preschool Child Image Processing, Computer-Assisted Deep Learning Adolescent Humans Female Adrenal Hyperplasia, Congenital Face California Longitudinal Studies Age Factors
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Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis.

Scientific reports Jun 1, 2020
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to impaired cortisol biosynthesis. Treatment includes glucocorticoid supplementation. We studied the specific metabolomics signatures in CAH patients using two di...
Pyrimidines Indoleamine-Pyrrole 2,3,-Dioxygenase Purines Adrenal Hyperplasia, Congenital Area Under Curve Hydrocortisone Humans Machine Learning Glucocorticoids Adult Metabolomics Case-Control Studies Male Metabolome Female ROC Curve Young Adult
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17-hydroxiprogesterone values in healthy preterm infants.

Colombia medica (Cali, Colombia) Dec 30, 2017
INTRODUCTION: In preterm newborn, problems with the interpretation of 17-OHP may occur.
Neonatal Screening Cohort Studies Gestational Age Enzyme-Linked Immunosorbent Assay Birth Weight 17-alpha-Hydroxyprogesterone Humans Infant, Premature Infant, Newborn Longitudinal Studies Adrenal Hyperplasia, Congenital Female Male Follow-Up Studies
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Predicting treatment outcome in congenital adrenal hyperplasia using urine steroidomics and machine learning.

European journal of endocrinology Jun 30, 2025
OBJECTIVE: Treatment monitoring of individuals with congenital adrenal hyperplasia (CAH) remains unsatisfactory. Comprehensive 24 h urine steroid profiling provides detailed insight into adrenal steroid pathways. We investigated whether 24 h urine st...
Adolescent Cohort Studies Male Prospective Studies Child, Preschool Humans Gas Chromatography-Mass Spectrometry Child Steroids Female Adrenal Hyperplasia, Congenital Machine Learning Treatment Outcome
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High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency.

Journal of clinical research in pediatric endocrinology Dec 1, 2015
Congenital adrenal hyperplasia (CAH) describes a group of disorders characterized by enzyme defects in adrenal steroidogenesis. 21-hydroxylase deficiency (21-OHD) is the most commonly encountered form. The analysis of steroids in pediatric cases requ...
Adrenal Hyperplasia, Congenital Syria Immunoassay 17-alpha-Hydroxyprogesterone Glucocorticoids Humans Adolescent Female Sensitivity and Specificity
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