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About 2,236 results

ALLMedicine™ Hydroxylase Deficiency Center

Research & Reviews  1,083 results

Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenode...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045390
BMC Gastroenterology; Tang YP, Gong JY et. al.

Apr 14th, 2021 - Deficiency of oxysterol 7α-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic cholestasis and hereditary spastic paraplegia type 5. Most reported patients with CYP7B1 mutations presenting with liver disease...

Clinical and hormonal profiles correlate with molecular characteristics in patients wit...
https://doi.org/10.1210/clinem/dgab225
The Journal of Clinical Endocrinology and Metabolism; Yildiz M, Isik E et. al.

Apr 8th, 2021 - Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and non-classic 11βOHD (NC-11βOHD). To characterize a multicenter pediatric...

Clinical outcomes in 21-hydroxylase deficiency.
https://doi.org/10.1097/MED.0000000000000625
Current Opinion in Endocrinology, Diabetes, and Obesity; Nordenström A, Lajic S et. al.

Mar 20th, 2021 - The introduction of synthetic glucocorticoids 70 years ago made survival possible in classic 21-hydroxylase deficiency (21OHD). The currently used glucocorticoid therapy may lead to unphysiological dosing with negative consequencies on health in a...

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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 C... 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  19 results see all →

Clinicaltrials.gov  1,121 results

Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenode...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045390
BMC Gastroenterology; Tang YP, Gong JY et. al.

Apr 14th, 2021 - Deficiency of oxysterol 7α-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic cholestasis and hereditary spastic paraplegia type 5. Most reported patients with CYP7B1 mutations presenting with liver disease...

Clinical and hormonal profiles correlate with molecular characteristics in patients wit...
https://doi.org/10.1210/clinem/dgab225
The Journal of Clinical Endocrinology and Metabolism; Yildiz M, Isik E et. al.

Apr 8th, 2021 - Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and non-classic 11βOHD (NC-11βOHD). To characterize a multicenter pediatric...

Clinical outcomes in 21-hydroxylase deficiency.
https://doi.org/10.1097/MED.0000000000000625
Current Opinion in Endocrinology, Diabetes, and Obesity; Nordenström A, Lajic S et. al.

Mar 20th, 2021 - The introduction of synthetic glucocorticoids 70 years ago made survival possible in classic 21-hydroxylase deficiency (21OHD). The currently used glucocorticoid therapy may lead to unphysiological dosing with negative consequencies on health in a...

see more →

News  9 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.

FDA Sends Hypotension Drug Droxidopa for More Study
https://www.staging.medscape.com/viewarticle/761262

Mar 29th, 2012 - March 30, 2012 — The US Food and Drug Administration (FDA) would like to see more evidence for droxidopa in the treatment of neurogenic orthostatic hypotension in patients with primary autonomic failure before it considers approving the product, C...

FDA Sends Hypotension Drug Droxidopa for More Study
https://www.medscape.com/viewarticle/761262

Mar 29th, 2012 - March 30, 2012 — The US Food and Drug Administration (FDA) would like to see more evidence for droxidopa in the treatment of neurogenic orthostatic hypotension in patients with primary autonomic failure before it considers approving the product, C...

Don't Screen for Adrenal Hyperplasia in Preemies: Study
https://www.medscape.com/viewarticle/758400

Feb 9th, 2012 - NEW YORK (Reuters Health) Feb 09 - French researchers say that in preterm newborns, routine screening for adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) isn't worthwhile because the positive predictive value is very low in these bab...

Don't Screen for Adrenal Hyperplasia in Preemies: Study
https://www.staging.medscape.com/viewarticle/758400

Feb 9th, 2012 - NEW YORK (Reuters Health) Feb 09 - French researchers say that in preterm newborns, routine screening for adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) isn't worthwhile because the positive predictive value is very low in these bab...

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