ALLMedicine™ Hydroxylase Deficiency Center

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...

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...

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 ...

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...

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....

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...

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...

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...

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...

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...

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...

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...

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, ...

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.

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 ...

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...