T. Shepard, B. Landing, and D. Mason, Familial Addison's disease; case reports of two 378 sisters with corticoid deficiency unassociated with hypoaldosteronism, AMA J Dis Child, 1959.

J. Allgrove, G. Clayden, D. Grant, and J. Macaulay, Familial glucocorticoid deficiency with 3. Clark AJ, McLoughlin L & Grossman A. Familial glucocorticoid deficiency associated with 383 point mutation in the adrenocorticotropin receptor, Lancet, pp.341-461, 1993.

M. , K. B. Nurnberg, and P. , Mutations in MRAP, encoding a new interacting partner of the 386 ACTH receptor, cause familial glucocorticoid deficiency type 2, Nat Genet, vol.37, pp.166-170, 2005.

J. Tomlinson and N. Krone, Nonclassic lipoid congenital adrenal hyperplasia 389 masquerading as familial glucocorticoid deficiency, J Clin Endocrinol Metab, vol.94, issue.6, pp.3865-390, 2009.

S. Parajes, C. Kamrath, I. Rose, A. Taylor, C. Mooij et al., A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating 393 mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1), J Clin, vol.392, issue.394

T. Sahakitrungruang, M. Tee, P. Blackett, and W. Miller, ) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia, The Journal of Clinical Endocrinology & Metabolism, vol.96, issue.3, pp.792-798, 2010.
DOI : 10.1210/jc.2010-1828

A. Metherell and L. , MCM4 mutation causes adrenal failure, short stature, and natural killer 400 cell deficiency in humans, J Clin Invest, vol.2012, pp.122-814

N. Mann, R. Banerjee, and H. Saka, Mutations in NNT encoding nicotinamide nucleotide 403 transhydrogenase cause familial glucocorticoid deficiency, Nat Genet, vol.44, issue.404, pp.740-742, 2012.

R. Prasad, L. Chan, C. Hughes, J. Kaski, J. Kowalczyk et al., Thioredoxin Reductase 2 (TXNRD2) mutation associated with 406 familial glucocorticoid deficiency (FGD), J Clin Endocrinol Metab, vol.2014, issue.407, pp.99-1556

A. Weinberg-shukron, A. Abu-libdeh, F. Zhadeh, C. L. Kogot-levin, A. Kamal et al., Combined mineralocorticoid and 412 glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide 413 transhydrogenase mutation that alters mitochondrial morphology and increases oxidative 414 stress, J Med Genet, vol.12, issue.415, p.13, 2015.

E. Hershkovitz, M. Arafat, N. Loewenthal, A. Haim, and R. Parvari, Combined adrenal failure and 416 testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase 417 deficiency, J Pediatr Endocrinol Metab, vol.2015, pp.28-1187

J. Zhang and C. Van-ravenswaaij-arts, A novel homozygous insertion and review of published 420 mutations in the NNT gene causing familial glucocorticoid deficiency (FGD), Eur J Med, vol.421, issue.58, pp.642-649, 2015.

S. Rath, K. Carpenter, N. Pachter, J. Dickinson, G. Price et al., Choong 423 CS & Metherell LA. NNT pseudoexon activation as a novel mechanism for disease in two 424 siblings with familial glucocorticoid deficiency, J Clin Endocrinol Metab, vol.2015, issue.425, pp.100-350

T. Guran, F. Buonocore, N. Saka, N. Ozbek, M. Aycan et al., Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort, The Journal of Clinical Endocrinology & Metabolism, vol.101, issue.1, pp.20153250-20153267, 2015.
DOI : 10.1210/jc.2015-3250

Y. Hatefi and M. Yamaguchi, Nicotinamide nucleotide transhydrogenase: a model for utilization 429 of substrate binding energy for proton translocation, FASEB J, vol.10, issue.430, pp.444-452, 1996.

E. Arkblad, C. Betsholtz, D. Mandoli, and J. Rydstrom, Characterization of a nicotinamide 431 nucleotide transhydrogenase gene from the green alga Acetabularia acetabulum and 432 comparison of its structure with those of the corresponding genes in mouse and 433

E. Arkblad, S. Tuck, N. Pestov, R. Dmitriev, M. Kostina et al., Tranberg M & transhydrogenase displays increased sensitivity to oxidative stress, Free Radic Biol Med, vol.439, pp.38-1518, 2005.

W. Miller, Steroid hormone synthesis in mitochondria, Molecular and Cellular Endocrinology, vol.379, issue.1-2, pp.379-62
DOI : 10.1016/j.mce.2013.04.014

H. Freeman, K. Shimomura, E. Horner, R. Cox, and F. Ashcroft, RETRACTED: Nicotinamide nucleotide transhydrogenase: A key role in insulin secretion, Cell Metabolism, vol.3, issue.1, pp.35-45, 2006.
DOI : 10.1016/j.cmet.2005.10.008

A. Kim, C. Chen, P. Ursell, and T. Huang, Genetic modifier of mitochondrial superoxide 447 dismutase-deficient mice delays heart failure and prolongs survival, Mamm Genome, vol.21, pp.448-534, 2010.

R. Prasad, J. Kowalczyk, E. Meimaridou, H. Storr, and L. Metherell, Oxidative stress and 450 adrenocortical insufficiency, J Endocrinol, vol.2014, pp.221-63

T. Olausson, O. Fjellstrom, J. Meuller, and J. Rydstrom, Molecular biology of nicotinamide 455 nucleotide transhydrogenase--a unique proton pump, Biochim Biophys Acta, 199512311.

J. Jackson, A review of the binding-change mechanism for proton-translocating 460 transhydrogenase, Biochim Biophys Acta, vol.461, p.30, 2012.

A. Rosler, The Natural History of Salt-Wasting Disorders of Adrenal and Renal Origin*, The Journal of Clinical Endocrinology & Metabolism, vol.59, issue.4, p.462
DOI : 10.1210/jcem-59-4-689

C. Giulivi, Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid 466 deficiency, BBA Clin, vol.3, pp.70-78, 2015.

P. Emy, Adrenal rest tissue in gonads of patients with classical congenital adrenal 473 hyperplasia: multicenter study of 45 French male patients, Ann Endocrinol, vol.73, pp.474-515, 2012.

R. Pignatelli and N. Katsanis, Loss of Function Mutations in NNT Are Associated with Left 477

A. Ventricular-noncompaction, A. Hardenberg, M. Hohl, J. Loffler, M. Kohlhaas et al., 478 35, Circ Cardiovasc Genet, 2015.

C. Gloeckner and H. Wichmann, Mutations in the mitochondrial thioredoxin reductase 483 gene TXNRD2 cause dilated cardiomyopathy, Eur Heart J, vol.32, pp.1121-1133, 2011.

L. Nadolnik, Z. Niatsetskaya, and S. Lupachyk, Effect of oxidative stress on rat thyrocyte iodide metabolism, Cell Biochemistry and Function, vol.141, issue.3, pp.366-373, 2008.
DOI : 10.1002/cbf.1452

M. Sugawara, Y. Sugawara, K. Wen, and C. Giulivi, Generation of oxygen free radicals in thyroid 487 cells and inhibition of thyroid peroxidase, Exp Biol Med, vol.227, issue.488, pp.141-146, 2002.

C. Campos and A. Casado, Oxidative stress, thyroid dysfunction & Down syndrome, Indian J, p.489

H. Freeman, A. Hugill, N. Dear, F. Ashcroft, and R. Cox, Deletion of nicotinamide 491 nucleotide transhydrogenase: a new quantitive trait locus accounting for glucose intolerance in 41

H. Lu, Q. Wu, and H. Yang, DUOX2 promotes the elimination of the Klebsiella pneumoniae 494 strain K5 from T24 cells through the reactive oxygen species pathway, Int J Mol Med, vol.36, pp.495-551, 2015.