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ea0049ep59 | Adrenal cortex (to include Cushing's) | ECE2017

Assay of steroids with Liquid chromatography tandem mass spectrometry is superior to immunoassays in monitoring patients with 21-hydroxylase deficiency

Nermoen Ingrid , Dahl Sandra Rinne , Brondstad Ingeborg , Husebye Eystein S , Thorsby Per M , Lovas Kristian

Objective: Immunoassays of steroids are still used in the diagnosis and biochemical monitoring of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21 OHD). However, high levels of steroid intermediates can promote cross-reactivity between steroids giving rise to falsely elevated levels.Design: Fifty-nine patients with classic 21OHD (38 women) were studied. Blood samples were collected in the morning after overnight medicatio...

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ea0034oc3.3 | Steroids | SFEBES2014

The 21-hydroxylase pseudogene may have a role in induction of tolerance to steroidogenic machinery

Mitchell Anna Louise , Bronstad Ingeborg , Wolff Anette Boe , Narravula Alekhya , Skinningsrud Beate , Husebye Eystein S , Pearce Simon H S

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune Addisons disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...

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Endocrine Abstracts

Assay of steroids with Liquid chromatography tandem mass spectrometry is superior to immunoassays in monitoring patients with 21-hydroxylase deficiency

The 21-hydroxylase pseudogene may have a role in induction of tolerance to steroidogenic machinery

BiosciAbstracts