Familial glucocorticoid deficiency

Definition:

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including recurrent illnesses or infections, hypoglycemia, convulsions, failure to thrive and shock. The disease is life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that FGD is caused by mutation of the ACTH receptor (MC2R) and the accessory protein (MRAP).

References:

[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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