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About 2,140 results

ALLMedicine™ Hydroxylase Deficiency Center

Research & Reviews  1,055 results

International practice of corticosteroid replacement therapy in congenital adrenal hype...
https://doi.org/10.1530/EJE-20-1249
European Journal of Endocrinology; Bacila I, Freeman N et. al.

Jan 18th, 2021 - Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. T...

Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia...
https://doi.org/10.1530/EJE-20-0787
European Journal of Endocrinology; Bachelot A, Lapoirie M et. al.

Jan 14th, 2021 - We conducted a retrospective study on the long-term effect of mitotane treatment on testicular adrenal rest tumors (TARTs) in 5 adult patients with classic 21-hydroxylase deficiency,. After 60 months of mitotane treatment, a decrease of adrenal st...

Incidental Finding of Bilateral Ovarian Adrenal Rest Tumor in a Patient With Congenital...
https://doi.org/10.1177/1093526620980614
Pediatric and Developmental Pathology : the Official Jour... Bouzidi L, Triki M et. al.

Jan 12th, 2021 - Ovarian adrenal rest tumors (OART) are tumors that develop in females with congenital adrenal hyperplasia (CAH). In contrast to their counterpart in testicles, they are exceptional and few cases have been reported in the literature. In this report...

A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrom...
https://doi.org/10.1002/mgg3.1556
Molecular Genetics & Genomic Medicine REFERENCES; Lao Q, Mallappa A et. al.

Dec 17th, 2020 - Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease of steroidogenesis that affects 1 in 15,000. Approximately, 10% of the CAH population also suffer from CAH-X, a connective tissue dysplasia con...

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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  1 results see all →

Clinicaltrials.gov  1,071 results

International practice of corticosteroid replacement therapy in congenital adrenal hype...
https://doi.org/10.1530/EJE-20-1249
European Journal of Endocrinology; Bacila I, Freeman N et. al.

Jan 18th, 2021 - Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. T...

Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia...
https://doi.org/10.1530/EJE-20-0787
European Journal of Endocrinology; Bachelot A, Lapoirie M et. al.

Jan 14th, 2021 - We conducted a retrospective study on the long-term effect of mitotane treatment on testicular adrenal rest tumors (TARTs) in 5 adult patients with classic 21-hydroxylase deficiency,. After 60 months of mitotane treatment, a decrease of adrenal st...

Incidental Finding of Bilateral Ovarian Adrenal Rest Tumor in a Patient With Congenital...
https://doi.org/10.1177/1093526620980614
Pediatric and Developmental Pathology : the Official Jour... Bouzidi L, Triki M et. al.

Jan 12th, 2021 - Ovarian adrenal rest tumors (OART) are tumors that develop in females with congenital adrenal hyperplasia (CAH). In contrast to their counterpart in testicles, they are exceptional and few cases have been reported in the literature. In this report...

A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrom...
https://doi.org/10.1002/mgg3.1556
Molecular Genetics & Genomic Medicine REFERENCES; Lao Q, Mallappa A et. al.

Dec 17th, 2020 - Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease of steroidogenesis that affects 1 in 15,000. Approximately, 10% of the CAH population also suffer from CAH-X, a connective tissue dysplasia con...

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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