@article{fdi:010079102,
  title = {{E}ffect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome : a machine-learning-based analysis},
  author = {{N}guyen, {L}. {S}. and {P}rifti, {E}di and {I}chou, {F}. and {L}eban, {M}. and {F}unck-{B}rentano, {C}. and {T}ouraine, {P}. and {S}alem, {J}. {E}. and {B}achelot, {A}.},
  editor = {},
  language = {{ENG}},
  abstract = {{B}ackground. {C}ongenital adrenal hyperplasia ({CAH}) due to 21-hydroxylase deficiency leads to impaired cortisol biosynthesis. {T}reatment includes glucocorticoid supplementation. {W}e studied the specific metabolomics signatures in {CAH} patients using two different algorithms. {M}ethods. {I}n a case-control study of {CAH} patients matched on sex and age with healthy control subjects, two metabolomic analyses were performed: one using {M}etabo{D}iff, a validated differential metabolomic analysis tool and the other, using {P}redomics, a novel machine-learning algorithm. {R}esults. 168 participants were included (84 {CAH} patients). {T}here was no correlation between plasma cortisol levels during glucocorticoid supplementation and metabolites in {CAH} patients. {I}ndoleamine 2,3-dioxygenase enzyme activity was correlated with {ACTH} (rho coefficient = -0.25, p-value = 0.02), in {CAH} patients but not in controls subjects. {O}verall, 33 metabolites were significantly altered in {CAH} patients. {M}ain changes came from: purine and pyrimidine metabolites, branched aminoacids, tricarboxylic acid cycle metabolites and associated pathways (urea, glucose, pentose phosphates). {M}etabo{D}iff identified 2 modules that were significantly different between both groups: aminosugar metabolism and purine metabolism. {P}redomics found several interpretable models which accurately discriminated the two groups (accuracy of 0.86 and {AUROC} of 0.9). {C}onclusion. {CAH} patients and healthy control subjects exhibit significant differences in plasma metabolomes, which may be explained by glucocorticoid supplementation.},
  keywords = {},
  booktitle = {},
  journal = {{S}cientific {R}eports - {N}ature},
  volume = {10},
  numero = {1},
  pages = {art. 8859 [8 p.]},
  ISSN = {2045-2322},
  year = {2020},
  DOI = {10.1038/s41598-020-65897-y},
  URL = {https://www.documentation.ird.fr/hor/fdi:010079102},
}