J Korean Med Sci.  2009 Oct;24(5):979-981. 10.3346/jkms.2009.24.5.979.

Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report

• Kim CJ
• Woo YJ
• Kim GH
• Yoo HW

• KMID: 1782028
• DOI: http://doi.org/10.3346/jkms.2009.24.5.979

Abstract

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. We report a 2 month-old boy of nonconsanguineous parents, presented with hyperpigmentation. Physical examination showed diffuse dark skin of body including, oral mucosa, gum, hands, nails and scrotum. Laboratory evaluation revealed low serum cortisol (0.3 microgram/dL), with very high plasma ACTH level (18,000 pg/mL), and serum cortisol level did not increase after ACTH stimulation test. Serum sodium, potassium, plasma renin activity, aldosterone and 17-hydroxyprogesterone were normal. Sequence analysis of the ACTH receptor (MC2R) gene showed a homozygous mutation of D103N. Diagnosis of FGD was made and treatment started with oral hydrocortisone.

Keyword

Familial Glucocorticoid Deficiency; Adrenocorticotropic Hormone; Receptor, Melanocortin, Type 2

MeSH Terms

Adrenal Gland Diseases/genetics/metabolism/therapy
Amino Acid Substitution
Anti-Inflammatory Agents/therapeutic use
Glucocorticoids/*deficiency/metabolism
Homozygote
Hormone Replacement Therapy
Humans
Hydrocortisone/therapeutic use
Infant
Male
*Point Mutation
Polymerase Chain Reaction
Receptor, Melanocortin, Type 2/*genetics
Sequence Analysis, DNA

Figure

• 

  Fig. 1 Genetic analysis revealed a homozygous mutation in the coding region of the MC2R gene, consisting of a guanine to adenine transition at the first position of codon 103, resulting in substitution of aspartic acid for asparagine (D103N).

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