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ALLMedicine Hydroxylase Deficiency Center

Research & Reviews  985 results

Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Pati...
https://doi.org/10.1007/s00223-020-00704-4
Calcified Tissue International; Wiedemann A, Renard E et. al.

May 18th, 2020 - Vitamin D-dependent rickets type 1B (VDDR1B) is an autosomal semidominant genetic disorder caused by a deficiency in CYP2R1, which encodes vitamin D 25-hydroxylase, an enzyme that plays a crucial role in the conversion of vitamin D to 25-dihydroxy...

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplas...
https://doi.org/10.1007/s12020-020-02323-3
Endocrine Kocova M, Anastasovska V et. al.

May 4th, 2020 - Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but ...

Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of c...
https://doi.org/10.1007/s40618-020-01271-z
Journal of Endocrinological Investigation; Elmougy F, Elsharkawy M et. al.

Apr 30th, 2020 - The prevalence of CAH in Egypt is reported to be ten times more than that of the worldwide prevalence. The study aimed at genetic screening of children diagnosed with 21-alpha hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH). In a...

The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Sy...
https://doi.org/10.1210/clinem/dgaa199
The Journal of Clinical Endocrinology and Metabolism; Gao Y, Lu L et. al.

Apr 15th, 2020 - Defects in both CYP21A2 and TNXB genes can cause congenital adrenal hyperplasia combined with hypermobility-type Ehlers-Danlos syndrome (EDS), which has recently been named CAH-X syndrome. The purpose of this study is to assess the prevalence of t...

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
https://doi.org/10.1111/cen.14190
Clinical Endocrinology REFERENCES; Fernández CS, Taboas M et. al.

Apr 14th, 2020 - 21-hydroxylase deficiency is the most common cause of Congenital Adrenal Hyperplasia. It presents as severe or classical forms-salt wasting and simple virilizing-and a mild or nonclassical (NC). Several studies have reported the frequency of patho...

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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  1,001 results

Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Pati...
https://doi.org/10.1007/s00223-020-00704-4
Calcified Tissue International; Wiedemann A, Renard E et. al.

May 18th, 2020 - Vitamin D-dependent rickets type 1B (VDDR1B) is an autosomal semidominant genetic disorder caused by a deficiency in CYP2R1, which encodes vitamin D 25-hydroxylase, an enzyme that plays a crucial role in the conversion of vitamin D to 25-dihydroxy...

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplas...
https://doi.org/10.1007/s12020-020-02323-3
Endocrine Kocova M, Anastasovska V et. al.

May 4th, 2020 - Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but ...

Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of c...
https://doi.org/10.1007/s40618-020-01271-z
Journal of Endocrinological Investigation; Elmougy F, Elsharkawy M et. al.

Apr 30th, 2020 - The prevalence of CAH in Egypt is reported to be ten times more than that of the worldwide prevalence. The study aimed at genetic screening of children diagnosed with 21-alpha hydroxylase deficiency congenital adrenal hyperplasia (21OHD-CAH). In a...

Northera - droxidopa capsule-Lundbeck Pharmaceuticals LLC
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=2179f02c-48d7-48eb-8007-5ae43d8d16bc

Apr 15th, 2020 - NORTHERA is indicated for the treatment of orthostatic dizziness, lightheadedness, or the “feeling that you are about to black out” in adult patients with symptomatic neurogenic orthostatic hypotension (nOH) caused by primary autonomic failure (Pa...

The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Sy...
https://doi.org/10.1210/clinem/dgaa199
The Journal of Clinical Endocrinology and Metabolism; Gao Y, Lu L et. al.

Apr 15th, 2020 - Defects in both CYP21A2 and TNXB genes can cause congenital adrenal hyperplasia combined with hypermobility-type Ehlers-Danlos syndrome (EDS), which has recently been named CAH-X syndrome. The purpose of this study is to assess the prevalence of t...

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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.

Study Probes Rare Adrenal Disorder Tied to Gender Ambiguity
https://www.medscape.com/viewarticle/875406

Feb 5th, 2017 - A new study of the largest international cohort of 108 patients with congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency sheds light on the characteristics of this rare genetic disease. The treatable disease, which typically pre...

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...

Practice Guideline Recommends Universal Newborn Screening for Congenital Adrenal Hyperplasia
https://www.medscape.com/viewarticle/728390

Sep 12th, 2010 - September 13, 2010 — Universal newborn screening is recommended for congenital adrenal hyperplasia (CAH), according to the new Clinical Practice Guideline from The Endocrine Society, published in the September issue of the Journal of Clinical Endo...

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