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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

The New England journal of medicine, 2020-09, Vol.383 (13), p.1248-1261

2020

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Letter to the Editor from Lao and Merke: “Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia”

The journal of clinical endocrinology and metabolism, 2021-07, Vol.106 (7), p.e2835-e2836

2021

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Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras

European journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1047-1048

2021

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High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

The Journal of molecular diagnostics : JMD, 2019-09, Vol.21 (5), p.924-931

2019

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Comprehensive Mutation Analysis of the CYP21A2 Gene

The Journal of molecular diagnostics : JMD, 2013-11, Vol.15 (6), p.745-753

2013

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11-Oxygenated Androgens Useful in the Setting of Discrepant Conventional Biomarkers in 21-Hydroxylase Deficiency

Journal of the Endocrine Society, 2021-02, Vol.5 (2), p.bvaa192-bvaa192

2021

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24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency

Frontiers in endocrinology (Lausanne), 2021-11, Vol.12, p.751191-751191

2021

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A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia

Molecular genetics & genomic medicine, 2021-02, Vol.9 (2), p.e1556-n/a

2021

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CAHQL: A patient reported outcome instrument to assess health-related quality of life in congenital adrenal hyperplasia

The journal of clinical endocrinology and metabolism, 2024-05

2024

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Future Directions in the Study and Management of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Annals of internal medicine, 2002-02, Vol.136 (4), p.320

2002

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Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management

The journal of clinical endocrinology and metabolism, 2023-08, Vol.108 (9), p.2154-2175

2023

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Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia

Gene, 2019-03, Vol.687, p.30-34

2019

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Long‐term use of continuous subcutaneous hydrocortisone infusion therapy in patients with congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2018-10, Vol.89 (4), p.399-407

2018

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Multidimensional Aspects of Female Sexual Function in Congenital Adrenal Hyperplasia: A Case-Control Study

Journal of the Endocrine Society, 2020-11, Vol.4 (11), p.bvaa131-bvaa131

2020

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The Role of Laparoscopic Surgery in Adrenal Disease: A Pediatric Perspective

The journal of clinical endocrinology and metabolism, 1998-09, Vol.83 (9), p.3046-3048

Merke, Deborah P

1998

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Individualizing Management of Infertility in Classic Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumors

Journal of the Endocrine Society, 2019-12, Vol.3 (12), p.2290-2294

2019

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Comparison of modified-release hydrocortisone capsules versus prednisolone in the treatment of congenital adrenal hyperplasia

Endocrine Connections, 2024-08, Vol.13 (8), p.1-8

2024

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11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2017-08, Vol.102 (8), p.2701-2710

2017

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Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant

Journal of the Endocrine Society, 2022-10, Vol.6 (10), p.bvac127

2022

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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

The New England journal of medicine, 2020-09, Vol.383 (13), p.1248-1261

2020

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Children experience cognitive decline despite reversal of brain atrophy one year after resolution of cushing syndrome

The journal of clinical endocrinology and metabolism, 2005-05, Vol.90 (5), p.2531-2536

2005

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Congenital Adrenal Hyperplasia Presenting as an Adrenal Mass With Increased 18F-FDG Positron Emission Tomography Uptake

Journal of the Endocrine Society, 2017-08, Vol.1 (8), p.1110-1112

2017

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4: Weaning glucocorticoid therapy for nonclassic congenital adrenal hyperplasia: An informative pediatric case report

Journal of pediatric nursing, 2024-07, Vol.77, p.243-243

2024

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5: Multiple Co-morbidities associated with congenital adrenal hyperplasia-X (CAH-X): An informative pediatric case report

Journal of pediatric nursing, 2024-07, Vol.77, p.243-243

2024

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Alterations in Hydrocortisone Pharmacokinetics in a Patient With Congenital Adrenal Hyperplasia Following Bariatric Surgery

Journal of the Endocrine Society, 2017-07, Vol.1 (7), p.994-1001

2017

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KollektionWiley Online Library Journals Frontfile Complete

Zeitschrift / SerieInternational Journal Of Pediatric Endocrinology

ThemaAdrenal Hyperplasia, Congenital - Genetics

ThemaFemale

ThemaHumans

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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Letter to the Editor from Lao and Merke: “Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia”

Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras

High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

Comprehensive Mutation Analysis of the CYP21A2 Gene

11-Oxygenated Androgens Useful in the Setting of Discrepant Conventional Biomarkers in 21-Hydroxylase Deficiency

24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency

A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia

CAHQL: A patient reported outcome instrument to assess health-related quality of life in congenital adrenal hyperplasia

Future Directions in the Study and Management of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management

Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia

Long‐term use of continuous subcutaneous hydrocortisone infusion therapy in patients with congenital adrenal hyperplasia

Multidimensional Aspects of Female Sexual Function in Congenital Adrenal Hyperplasia: A Case-Control Study

The Role of Laparoscopic Surgery in Adrenal Disease: A Pediatric Perspective

Individualizing Management of Infertility in Classic Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumors

Comparison of modified-release hydrocortisone capsules versus prednisolone in the treatment of congenital adrenal hyperplasia

11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency

Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Children experience cognitive decline despite reversal of brain atrophy one year after resolution of cushing syndrome

Congenital Adrenal Hyperplasia Presenting as an Adrenal Mass With Increased 18F-FDG Positron Emission Tomography Uptake

4: Weaning glucocorticoid therapy for nonclassic congenital adrenal hyperplasia: An informative pediatric case report

5: Multiple Co-morbidities associated with congenital adrenal hyperplasia-X (CAH-X): An informative pediatric case report

Alterations in Hydrocortisone Pharmacokinetics in a Patient With Congenital Adrenal Hyperplasia Following Bariatric Surgery

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