ALLMedicine™ Hydroxylase Deficiency Center

Oct 9th, 2020 - Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L-threo-3,4-dihydroxyphenylserine (L-DOPS). We aimed to summarize clinical, biochemical, and...

Oct 1st, 2020 - One of the major purposes of newborn screening for 21-hydroxylase deficiency (21OHD) is preventing life-threatening adrenal crisis. However, the details of adrenal crisis in newborns are not precisely documented. We aimed to clarify the clinical d...

Sep 30th, 2020 - Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient or clinician reported sick day episodes (SDE) is less clear. Data on children with classic 21-hydroxylase deficiency CAH...

Sep 30th, 2020 - Congenital adrenal hyperplasia (CAH) comprises a group of inherited autosomal recessive disorders characterised by defective cortisol biosynthesis, compensatory increases in corticotrophin secretion and adrenocortical hyperplasia. The characterist...

Sep 23rd, 2020 - Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.|2020|Merke DP,Auchus RJ,|blood,metabolism,complications,diagnosis,genetics,therapy,metabolism,blood,abnormalities,therapeutic use,etiology,metabolism,

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...

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...

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...

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.

Oct 9th, 2020 - Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L-threo-3,4-dihydroxyphenylserine (L-DOPS). We aimed to summarize clinical, biochemical, and...

Oct 1st, 2020 - One of the major purposes of newborn screening for 21-hydroxylase deficiency (21OHD) is preventing life-threatening adrenal crisis. However, the details of adrenal crisis in newborns are not precisely documented. We aimed to clarify the clinical d...

Sep 30th, 2020 - Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient or clinician reported sick day episodes (SDE) is less clear. Data on children with classic 21-hydroxylase deficiency CAH...

Sep 30th, 2020 - Congenital adrenal hyperplasia (CAH) comprises a group of inherited autosomal recessive disorders characterised by defective cortisol biosynthesis, compensatory increases in corticotrophin secretion and adrenocortical hyperplasia. The characterist...

Sep 23rd, 2020 - Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.|2020|Merke DP,Auchus RJ,|blood,metabolism,complications,diagnosis,genetics,therapy,metabolism,blood,abnormalities,therapeutic use,etiology,metabolism,

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.