Article
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
European journal of endocrinology - 1 Dec 2011
Jain V, Metherell L A, David A, Sharma R, Sharma P K, Clark A J L, Chan L F
Abstract excerpt
BACKGROUND: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by isolated glucocorticoid deficiency. Mutations in the ACTH receptor/melanocortin 2 receptor (MC2R), the MC2R accessory protein (MRAP) or the STAR protein (STAR) cause FGD types 1, 2 and 3, respectively, accounting for ~50% of all cases. PATIENT AND METHODS: We report a neonate of Indian origin, who was...
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