1)Baba T, Otake H, Sato T, et al. Glycolytic genes as the targets of a nuclear receptor Ad4BP/SF-1.Nature Commun. 2014; 5: 3634
|
|
|
2)Ju Y, Mizutani T, Imamichi Y, et al. Nuclear receptor 5A(NR5A) family regulates 5-aminolevulinic acid synthase 1(ALAS1) gene expression in steroidogenic cells. Endocrinology. 2012; 153: 5522-34
|
|
|
3)Gondo S, Yanase T, Okabe T. SF-1/Ad4BP transforms primary long-term cultured bone marrow cells into ACTH-responsive steroidogenic cells. Genes Cells. 2004; 9: 1239-47
|
|
|
4)Yazawa T, Mizutani T, Yamada K, et al. Differentiation of adult stem cells derived from bone marrow stroma into Leydig or adrenocortical cells. Endocrinology. 2006; 147: 4104-11
|
|
|
5)Sonoyama T, Sone M, Honda K, et al. Differentiation of human embryonic stem cells and human induced pluripotent stem cells into steroid-producing cells. Endocrinology. 2012; 153: 4336-45
|
|
|
6)Meimaridou E, Kowalczyk J, Guasti L, et al. Mutations in NNT encoding nic- otinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet. 2012; 44: 740-2
|
|
|
7)Yamaguchi R, Kato F, Hasegawa T. A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. Endocr J. 2013; 60: 855-9
|
|
|
8)Prasad R, Chan LF, Hughes CR, et al. Thioredoxin reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab. 2014: jc20133844. [Epub ahead of print]
|
|
|
9)Arboleda VA, Lee H, Parnaik R, et al. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nature. Genetics 2012; 44: 788-92
|
|
|
10)Kato F, Hamajima T, Hasegawa T, et al. Image syndrome: Clinical and genetic implications based on investigations in three Japanese patients. Clin Endocrinol(Oxf). 2014; 80: 706-13
|
|
|
11)Ikeda M, Hirano M, Shinoda K, et al. Triple A syndrome in Japan. Muscle Nerve. 2013; 48: 381-6
|
|
|
12)Baker BY, Lin L, Kim CJ, et al. Non classic congenital lipoid adrenal hyperplasia: A new disorder of the StAR protein with very late presentation and normal male genitalia. J Clin Endocrinol Metab. 2006; 91: 4781-5
|
|
|
13)副腎クリーゼを含む副腎皮質機能低下症の診断と治療に関する指針 http://square.umin.ac. jp/endocrine/hottopics/20140311sinryousisin.pdf 日本内分泌学会HP
|
|
|
14)Erturk E, Jaffe CA, Barkan AL. Evaluation of the integrity of the hypothalamic- pituitary-adrenal axis by insulin hypoglycemia test. J Clin Endocrinol Metab. 1998; 83: 2350-4
|
|
|
15)Berg C, Meinel T, Lahner H, et al. Diagnostic utility of the glucagon stimulation test in comparison to the insulin tolerance test in patients following pituitary surgery. Eur J Endocrinol. 2010; 162: 477-82
|
|
|
16)Oelkers W. Adrenal insufficiency. New Engl J Med. 1998; 17: 1206-12
|
|
|
17)Maghnie M, Uga E, Temporini F, et al. Evaluation of adrenal function in patients with growth hormone deficiency and hypothalamic-pituitary disorders: comparison between insulin-induced hypoglycemia, low-dose ACTH, standard ACTH and CRH stimulation tests. Eur J Endcrinol. 2005; 152: 735-41
|
|
|
18)Grinspoon SK, Biller BM. Clinical review 62: Laboratory assessment of adrenal insufficiency. J Clin Endocrinol Metab. 1994; 79: 923-31
|
|
|
19)Kazlauskaite R, Evans AT, Villabona CV, et al. Corticotropin tests for hypothalamic-pituitary- adrenal insufficiency: a metaanalysis. J Clin Endocrinol Metab. 2008; 93: 4245-53
|
|
|
20)Dorin RI, Qualls CR, Crapo LM. Diagnosis of adrenal insufficiency. Ann Intern Med. 2003; 139: 194-204
|
|
|
21)Bleicken B, Hahner S, Loeffler M, et al. Influence of hydrocortisone dosage scheme on health-related quality of life in patients with adrenal insufficiency. Clin Endocrinol. 2010; 72: 297-304
|
|
|
22)Debono M, Ghobadi C, Rostami-Hodjegan A, et al. Modified-release hydrocortisone to provide circadian cortisol profiles. J Clin Endocrinol Metab. 2009; 94: 1548-54
|
|
|
23)Verma S, Vanryzin C, Sinaii N, et al. A, pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (Chronocort) vs. conventional hydrocortisone (Cortef) in the treatment of congenital adrenal hyperplasia. Clin Endocrinol(Oxf). 2010; 72: 441-7
|
|
|
24)Johannsson G, Nilsson AG, Bergthorsdottir R, et al. Improved cortisol exposure-time profile and outcome in patients with adrenal insufficiency: a prospective randomized trial of a novel hydrocortisone dual-release formulation. J Clin Endocrinol Metab. 2012; 97: 473-81
|
|
|