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About 2,060 results

ALLMedicine™ Hydroxylase Deficiency Center

Research & Reviews  1,025 results

Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.
https://doi.org/10.1002/jimd.12321
Journal of Inherited Metabolic Disease REFERENCES; Wassenberg T, Deinum J et. al.

Oct 9th, 2020 - Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L-threo-3,4-dihydroxyphenylserine (L-DOPS). We aimed to summarize clinical, biochemical, and...

The progression of salt-wasting and the body weight change during the first 2 weeks of ...
https://doi.org/10.1111/cen.14347
Clinical Endocrinology References; Gau M, Konishi K et. al.

Oct 1st, 2020 - One of the major purposes of newborn screening for 21-hydroxylase deficiency (21OHD) is preventing life-threatening adrenal crisis. However, the details of adrenal crisis in newborns are not precisely documented. We aimed to clarify the clinical d...

Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With C...
https://doi.org/10.1210/clinem/dgaa694
The Journal of Clinical Endocrinology and Metabolism; Ali SR, Bryce J et. al.

Sep 30th, 2020 - Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient or clinician reported sick day episodes (SDE) is less clear. Data on children with classic 21-hydroxylase deficiency CAH...

Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526031
BMJ Case Reports; Aljabri A, Alnaim F et. al.

Sep 30th, 2020 - Congenital adrenal hyperplasia (CAH) comprises a group of inherited autosomal recessive disorders characterised by defective cortisol biosynthesis, compensatory increases in corticotrophin secretion and adrenocortical hyperplasia. The characterist...

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
https://doi.org/10.1056/NEJMra1909786
The New England Journal of Medicine; Merke DP, Auchus RJ

Sep 23rd, 2020 - Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.|2020|Merke DP,Auchus RJ,|blood,metabolism,complications,diagnosis,genetics,therapy,metabolism,blood,abnormalities,therapeutic use,etiology,metabolism,

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Guidelines  4 results

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine S...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456929
The Journal of Clinical Endocrinology and Metabolism; Speiser PW, Arlt W et. al.

Oct 2nd, 2018 - To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010. The writing committee presents updated best practice guidelines for the clinical manageme...

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
https://doi.org/10.1038/gim.2013.157
Genetics in Medicine : Official Journal of the American College of Medical Genetics; Vockley J, Andersson HC et. al.

Jan 4th, 2014 - Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error of metabolism to be identified through population screen...

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine S...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936060
The Journal of Clinical Endocrinology and Metabolism; Speiser PW, Azziz R et. al.

Sep 8th, 2010 - We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH). The Task Force included a chair, selected by The Endocrine Society Clinical Guidelines Subcommittee (CGS), ten additional clinicians experienced in treating CAH, a...

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Societ...
https://academic.oup.com/jcem/article/95/9/4133/2835216
Phyllis W. Speiser

Aug 31st, 2010 - We recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests. We recommend that prenatal treatment of CAH continue to be regarded as experimental.

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Drugs  1 results see all →

Clinicaltrials.gov  1,029 results

Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.
https://doi.org/10.1002/jimd.12321
Journal of Inherited Metabolic Disease REFERENCES; Wassenberg T, Deinum J et. al.

Oct 9th, 2020 - Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L-threo-3,4-dihydroxyphenylserine (L-DOPS). We aimed to summarize clinical, biochemical, and...

The progression of salt-wasting and the body weight change during the first 2 weeks of ...
https://doi.org/10.1111/cen.14347
Clinical Endocrinology References; Gau M, Konishi K et. al.

Oct 1st, 2020 - One of the major purposes of newborn screening for 21-hydroxylase deficiency (21OHD) is preventing life-threatening adrenal crisis. However, the details of adrenal crisis in newborns are not precisely documented. We aimed to clarify the clinical d...

Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With C...
https://doi.org/10.1210/clinem/dgaa694
The Journal of Clinical Endocrinology and Metabolism; Ali SR, Bryce J et. al.

Sep 30th, 2020 - Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient or clinician reported sick day episodes (SDE) is less clear. Data on children with classic 21-hydroxylase deficiency CAH...

Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526031
BMJ Case Reports; Aljabri A, Alnaim F et. al.

Sep 30th, 2020 - Congenital adrenal hyperplasia (CAH) comprises a group of inherited autosomal recessive disorders characterised by defective cortisol biosynthesis, compensatory increases in corticotrophin secretion and adrenocortical hyperplasia. The characterist...

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
https://doi.org/10.1056/NEJMra1909786
The New England Journal of Medicine; Merke DP, Auchus RJ

Sep 23rd, 2020 - Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.|2020|Merke DP,Auchus RJ,|blood,metabolism,complications,diagnosis,genetics,therapy,metabolism,blood,abnormalities,therapeutic use,etiology,metabolism,

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News  1 results

Endocrine Society updates guidelines for congenital adrenal hyperplasia
https://www.mdedge.com/obgyn/article/176731/pituitary-thyroid-adrenal-disorders/endocrine-society-updates-guidelines
Jeff Craven

Oct 9th, 2018 - New data on neonatal screening, protocols for adults and pregnant women, and approaches to genital reconstruction surgery are key elements of the guidelines on the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency recently up.

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