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About 1,135 results

ALLMedicine™ Hydroxylase Deficiency Center

Research & Reviews  408 results

Natural History Study of Patients With Excess Androgen
https://clinicaltrials.gov/ct2/show/NCT00250159

May 13th, 2022 - Androgen excess in childhood results in pseudoprecocious puberty, accelerated childhood growth with premature epiphyseal fusion, adult short stature, and unknown metabolic and psychological perturbations. Congenital adrenal hyperplasia (CAH) and f...

A multi-classifier system to identify and subtype congenital adrenal hyperplasia based ...
https://doi.org/10.1210/clinem/dgac271
The Journal of Clinical Endocrinology and Metabolism; Ye L, Zhao Z et. al.

May 6th, 2022 - Measurement of plasma steroids is necessary for diagnosis of congenital adrenal hyperplasia (CAH). We sought to establish an efficient strategy for detection and subtyping of CAH with a machine-learning algorithm. Clinical phenotype and genetic te...

Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a ...
https://doi.org/10.1515/jpem-2021-0696
Journal of Pediatric Endocrinology & Metabolism : JPEM; Ngo Um SS, Betoko RM et. al.

May 3rd, 2022 - Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders to diagnose, manage, and treat, especially in Africa where there is lack of neonatal screening program, and limited access to care. Data on biomolecular a...

Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Patients With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)
https://clinicaltrials.gov/ct2/show/NCT04806451

Apr 11th, 2022 - This is a Phase 3 study to evaluate the efficacy, safety, and tolerability of crinecerfont versus placebo administered for 28 weeks in approximately 81 pediatric patients with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defi...

Successful treatment of an infant with congenital bile acid synthesis disorder type 3 b...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8988363
Journal of Medical Case Reports; Mo W, Wang F et. al.

Apr 8th, 2022 - Congenital bile acid synthesis disorder type 3 caused by oxysterol 7α-hydroxylase deficiency is an extremely rare genetic liver disease. As it may cause rapid progression to end-stage liver disease, a high cautiousness in diagnosis and early treat...

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Guidelines  3 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...

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 5th, 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 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  17 results see all →

Clinicaltrials.gov  7 results

Natural History Study of Patients With Excess Androgen
https://clinicaltrials.gov/ct2/show/NCT00250159

May 13th, 2022 - Androgen excess in childhood results in pseudoprecocious puberty, accelerated childhood growth with premature epiphyseal fusion, adult short stature, and unknown metabolic and psychological perturbations. Congenital adrenal hyperplasia (CAH) and f...

Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Patients With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)
https://clinicaltrials.gov/ct2/show/NCT04806451

Apr 11th, 2022 - This is a Phase 3 study to evaluate the efficacy, safety, and tolerability of crinecerfont versus placebo administered for 28 weeks in approximately 81 pediatric patients with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defi...

Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment
https://clinicaltrials.gov/ct2/show/NCT03760835

Mar 22nd, 2022 - Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder characterized by cortisol and in some cases aldosterone deficiency, associated with androgen excess. Treatment goals are to replace cortisol deficie...

Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
https://clinicaltrials.gov/ct2/show/NCT04987073

Aug 3rd, 2021 - Preclinical evaluation of a vitamin D analog for the treatment of vitamin D 24-hydroxylase using fibroblast from patients with CYP24A1 mutation.

Ascorbic Acid Treatment in Congenital Glucocorticoids and Mineralocorticoids Deficiency Due to NNT Mutation
https://clinicaltrials.gov/ct2/show/NCT02838472

Jul 20th, 2016 - Most cases of familial glucocorticoid and mineralocorticoid deficiency are caused by mutations interrupting steroidogenesis such as 21- hydroxylase deficiency. Recently, nicotinamide nucleotide transhydrogenase (NNT) mutations were found to cause ...

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News  18 results

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management
https://reference.medscape.com/viewarticle/936001_3

Sep 18th, 2020 - Answer 2/5 Which of the following conditions presents in a similar way to AADC deficiency? Your peers chose: Gaucher disease 0% Mucopolysaccharidosis 0% Alpha-1 antitrypsin deficiency 0% Tetrahydrobiopterin (BH4) deficiency 0% BH4 deficiency prese...

ENDO 2019: 5 Key Takeaways in Pediatric Endocrinology
https://www.staging.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.staging.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, ...

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, ...

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 ...

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Patient Education  1 results see all →