ALLMedicine™ Hydroxylase Deficiency Center

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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.

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 ...

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...

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, ...

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, ...

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, ...

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 ...