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ea0063p436 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

Measuring steroids hormones by liquid chromatography–tandem mass spectrometry in 21-hydroxylase deficiency (21OHD) reveal large interindividual differences in hormone levels amongst patient with the same genetic mutation

Thorsby Per Medboe , Dahl Sandra R. , Bronstad Ingeborg , Lovas Kristian , Nermoen Ingrid

Background: We have previously shown that LC-MS/MS analyses of steroid hormones are superior to immunoassays monitoring 21OHD, due to better specificity and the possibility to multiplexing several steroid hormones in the same assay. This may lead to better understanding of the individual steroid hormone profile in patients with CAH. Here we present four patients cases with the same genotype in the CYP21A2 gene, and evaluate their steroid profile by LC-MS/MS analyses.<...

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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

Measuring steroids hormones by liquid chromatography–tandem mass spectrometry in 21-hydroxylase deficiency (21OHD) reveal large interindividual differences in hormone levels amongst patient with the same genetic mutation

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

BiosciAbstracts