Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.
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 microg/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.
Kim
Chan Jong
CJ
Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. cjkim@jnu.ac.kr
Woo
Young Jong
YJ
Kim
Gu Hwan
GH
Yoo
Han Wook
HW
D000307:Adrenal Gland Diseases / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D019943:Amino Acid Substitution; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D005938:Glucocorticoids / Q000172:deficiency* / Q000378:metabolism; D006720:Homozygote; D020249:Hormone Replacement Therapy; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007223:Infant; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D044103:Receptor, Melanocortin, Type 2 / Q000235:genetics*; D017422:Sequence Analysis, DNA
D000893:Anti-Inflammatory Agents; D005938:Glucocorticoids; D044103:Receptor, Melanocortin, Type 2; D006854:Hydrocortisone