Newborn screening for congenital adrenal hyperplasia

Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.

Endocrine journal·2016

The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.

The Journal of clinical endocrinology and metabolism·2004

Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.

Clinical endocrinology·2003

A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.

The Journal of clinical endocrinology and metabolism·2002

Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.

The Journal of clinical endocrinology and metabolism·2002

Centering Lived Experience: Inclusive Pediatric Care for Children Who Are Deaf and Hard of Hearing and Their Families.

Pediatric annals·2026

From Early Childhood to Adulthood: Implementing Neuroaffirming Health Care for Autistic Individuals.

Pediatric annals·2026

Neurodivergence in Medical Education: Current Landscape and Inclusive Future for Pediatrics.

Pediatric annals·2026

Neurodiversity and Intellectual Disability: Opportunities and Challenges for Functioning and Participation Across the Life Course.

Pediatric annals·2026

Action for Access: Equity for Children With Disabilities in Lowand Middle-Income Countries.

Pediatric annals·2026

Navigating Pediatric Urticaria: Diagnosis and Management for the Busy Pediatrician.

Pediatric annals·2026

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Brain : a journal of neurology·2026

Palatal Perforation as a Rare Presentation of Severe Congenital Neutropenia Due to an ELANE Mutation.

Cureus·2026

Median Nerve Entrapment After Intramedullary Nailing of a Pediatric Both-Bone Forearm Fracture: A Rare Case Report.

Case reports in orthopedics·2026

Relapse of Steroid-Dependent Nephrotic Syndrome Despite Long-Term Ciclosporin Therapy in an 11-Year-Old Child: A Case Report and Review on the Management of Nephrotic Syndrome in Children.

Case reports in nephrology·2026

Embryological Basis and Genetic Considerations of Right Lumbar Undescended Caecum with Paracaecal Appendix and Aberrant Vascular Supply.

Acta medica Lituanica·2026

Inhibition Mechanism of Pancreatic KATP Channels by Centipede Toxin.

Research (Washington, D.C.)·2026

Related Experiment Videos

Newborn screening for congenital adrenal hyperplasia

Related Concept Videos

Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia.

The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.

Carriers for type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test.

A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.

Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.

Centering Lived Experience: Inclusive Pediatric Care for Children Who Are Deaf and Hard of Hearing and Their Families.

From Early Childhood to Adulthood: Implementing Neuroaffirming Health Care for Autistic Individuals.

Neurodivergence in Medical Education: Current Landscape and Inclusive Future for Pediatrics.

Neurodiversity and Intellectual Disability: Opportunities and Challenges for Functioning and Participation Across the Life Course.

Action for Access: Equity for Children With Disabilities in Lowand Middle-Income Countries.

Navigating Pediatric Urticaria: Diagnosis and Management for the Busy Pediatrician.

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Palatal Perforation as a Rare Presentation of Severe Congenital Neutropenia Due to an ELANE Mutation.

Median Nerve Entrapment After Intramedullary Nailing of a Pediatric Both-Bone Forearm Fracture: A Rare Case Report.

Relapse of Steroid-Dependent Nephrotic Syndrome Despite Long-Term Ciclosporin Therapy in an 11-Year-Old Child: A Case Report and Review on the Management of Nephrotic Syndrome in Children.

Embryological Basis and Genetic Considerations of Right Lumbar Undescended Caecum with Paracaecal Appendix and Aberrant Vascular Supply.

Inhibition Mechanism of Pancreatic KATP Channels by Centipede Toxin.

Related Experiment Videos

Newborn screening for congenital adrenal hyperplasia

Related Concept Videos

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