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About 1,000 results

ALLMedicine™ Hydroxylase Deficiency Center

Research & Reviews  361 results

White Matter Microstructural Differences in Youth with Classical Congenital Adrenal Hyp...
https://doi.org/10.1210/clinem/dgab520
The Journal of Clinical Endocrinology and Metabolism; Cotter DL, Azad A et. al.

Jul 18th, 2021 - Gray matter morphology in the prefrontal cortex and subcortical regions, including the hippocampus and amygdala, are affected in youth with classical congenital adrenal hyperplasia (CAH). It remains unclear if white matter connecting these aforeme...

Reassessment of predictive values of ACTH-stimulated serum 21-deoxycortisol and 17-hydr...
https://doi.org/10.1111/cen.14550
Clinical Endocrinology; Costa-Barbosa FA, Carvalho VM et. al.

Jul 8th, 2021 - Heterozygotes (HZs) for 21-hydroxylase deficiency (21OHD) are highly prevalent, ranging from 1:60 to 1:11 for classic and nonclassic (NC) forms, respectively. Detection of HZ and asymptomatic NC by CYP21A2 genotyping is valuable for genetic counse...

Two novel variants in PLOD1 causing hydrocephalus in female newborn with kyphoscoliotic...
https://doi.org/10.1016/j.ejmg.2021.104269
European Journal of Medical Genetics; Zhao Y, Sun J et. al.

Jun 24th, 2021 - The kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by hyperextensible skin and joints, kyphoscoliosis, and severe muscle hypotonia at birth. Causal variants have been identified ...

Tildacerfont in Adults with Classic Congenital Adrenal Hyperplasia: Results from Two Ph...
https://doi.org/10.1210/clinem/dgab438
The Journal of Clinical Endocrinology and Metabolism; Sarafoglou K, Barnes CN et. al.

Jun 20th, 2021 - Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) is typically treated with lifelong supraphysiologic doses of glucocorticoids (GCs). Tildacerfont, a corticotropin-releasing factor type-1 receptor antagonist, may reduce exces...

Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature revie...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173927
Orphanet Journal of Rare Diseases; Foreman PK, Margulis AV et. al.

Jun 5th, 2021 - Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result in profound neurocognitive disability....

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Guidelines  2 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 3rd, 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...

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 9th, 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...

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Drugs  13 results see all →

Clinicaltrials.gov  9 results

24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
https://clinicaltrials.gov/ct2/show/NCT03478761

Mar 27th, 2018 - In this registry we propose to establish and maintain a registry of suspected and confirmed patients with 24 hydroxylase deficiency in an effort to collect data for further investigation. This would be the first and only known registry of its kind...

Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism
https://clinicaltrials.gov/ct2/show/NCT03446807

Mar 12th, 2018 - Parkinsonism, is a group of symptoms seen in several diseases, including Parkinson's Disease. In Parkinsonism, a patient may become stiff, have smaller and slower movements, develop a tremor (shaking of the arms or legs), have decreased facial exp...

Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia
https://clinicaltrials.gov/ct2/show/NCT01859312

Dec 22nd, 2017 - Congenital adrenal hyperplasia (CAH) is a common genetic endocrine disorder, with 21-hydroxylase enzyme deficiency accounting for 95% of the cases. 21-hydroxylase deficiency presents with a spectrum of clinical manifestations ranging from salt-was...

Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304)
https://clinicaltrials.gov/ct2/show/NCT01132326

Mar 15th, 2017 - This is a Phase III, multi-center, open-label study designed to evaluate the long-term safety of droxidopa in subjects with neurogenic orthostatic hypotension (NOH) associated with Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency or...

Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia
https://clinicaltrials.gov/ct2/show/NCT00519818

Mar 24th, 2016 - Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disease of the adrenal cortex characterized by cortisol deficiency with or without aldosterone deficiency, and androgen excess. The severe or classic form occurs in 1 in 15...

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News  14 results

ENDO 2019: 5 Key Takeaways in Pediatric Endocrinology
https://www.medscape.com/viewarticle/911873

May 8th, 2019 - Vaneeta Bamba, MD A range of presentations at the 2019 Endocrine Society Annual Meeting focused on issues that affect growth and health in individuals with endocrine disorders. To summarize the key takeaways from this plethora of new information, ...

From Bench to Bedside: ENDO 2019 Ties Science to Clinical Care
https://www.medscape.com/viewarticle/910539

Mar 18th, 2019 - ENDO 2019: The Endocrine Society Annual Meeting promises to bring scientific research and technology straight into the realm of clinical endocrinology practice, organizers say.  The meeting takes place March 23-26 in New Orleans. "For clinicians, ...

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.

Updated Guidelines on Hirsutism in Premenopausal Women
https://www.medscape.com/viewarticle/893904

Mar 14th, 2018 - An updated clinical guideline from the Endocrine Society recommends all women with hirsutism who are premenopausal should be tested for polycystic ovary syndrome (PCOS) and other underlying health issues. The guidance was published online March 7 ...

Defending the Cornerstones of Endocrinology
https://www.medscape.com/viewarticle/891595

Jan 25th, 2018 - The late George Carlin, a truly funny fellow, became known for his comedy shtick spoofing the seven naughty words designated by the Federal Communications Commission as unsuitable for public broadcast. The Centers for Disease Control and Preventio...

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Patient Education  1 results see all →