Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.

Manjiri Pramod KarlekarVijaya SarathiAnurag Ranjan LilaKhushnandan RaiSneha AryaVishwambhar Vishnu BhandareSridevi AtluriVirendra PatilSwati Ramteke-JadhavNalini S ShahAmbarish KunwarTushar R Bandgar

Published in: Clinical endocrinology (2020)

This first Indian study describes 13 11βOHD patients, including four with the rarer non-classic variant. A total of eight novel pathogenic variants were identified in our study, highlighting regional genetic heterogeneity. Measurement of ACTH-stimulated adrenal steroids by LC-MS/MS will help avoid the misdiagnosis of 11βOHD as 21OHD and has potential to distinguish classic from non-classic 11βOHD.

Keyphrases

copy number
end stage renal disease
newly diagnosed
ejection fraction
genome wide
chronic kidney disease
gene expression
prognostic factors
risk assessment
human health
replacement therapy
patient reported