Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.

Clinical Endocrinology
Teng-Teng ChungAdrian J L Clark

Abstract

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory protein (MRAP)]. The disorder is known as FGD type 1 and 2, respectively. The aim of the study was to compare the phenotype/genotype relationships between FGD 1 and 2. Forty patients with missense MC2R mutations and 22 patients with MRAP mutations were included. Forty-four of these patients had been referred for genetic screening and 18 were patients published by other authors. The median age at presentation for FGD type 1 was variable at 2.0 years; range 0.02-16 years, and this was associated with unusually tall stature, mean height SDS + 1.75 +/- 1.53 (mean +/- SD). In contrast, FGD type 2 presented at a much earlier median age (0.08 years; range at birth to 1.6 years) (P < 0.01) and patients were of normal height SDS + 0.12 +/- 1.35 (P < 0.001). No differences in baseline cortisol or ACTH levels were seen between FGD types 1 and 2. FGD type 2 appears to present earlier. This may reflect the functional significance of the underlying mutations in that all MRAP mutations are nonsense or splic...Continue Reading

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