Familial glucocorticoid deficiency
Definition:
References:
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[1]. A Weber, et al. Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. Clin Endocrinol (Oxf). 1997 Apr;46(4):431-7. [Content Brief]
[2]. Eirini Meimaridou, et al. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet. 2012 May 27;44(7):740-2. [Content Brief]
[3]. H Rumié, et al. Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein. Eur J Endocrinol. 2007 Oct;157(4):539-42. [Content Brief]
[4]. L F Chan, et al. Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. Horm Res. 2008;69(2):75-82. [Content Brief]
[5]. Louise A Metherell, et al. The genetics of ACTH resistance syndromes. Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):547-60. [Content Brief]
[6]. Rathi Prasad, et al. Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab. 2014 Aug;99(8):E1556-63. [Content Brief]
[7]. Sadani N Cooray, et al. Adrenocorticotropin resistance syndromes. Endocr Dev. 2008;13:99-116. [Content Brief]
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