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Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report
Journal of Korean Medical Science ; : 979-981, 2009.
Article in English | WPRIM | ID: wpr-93514
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Hydrocortisone / Polymerase Chain Reaction / Sequence Analysis, DNA / Point Mutation / Adrenal Gland Diseases / Amino Acid Substitution / Hormone Replacement Therapy / Receptor, Melanocortin, Type 2 / Glucocorticoids / Homozygote Limits: Humans / Infant / Male Language: English Journal: Journal of Korean Medical Science Year: 2009 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Hydrocortisone / Polymerase Chain Reaction / Sequence Analysis, DNA / Point Mutation / Adrenal Gland Diseases / Amino Acid Substitution / Hormone Replacement Therapy / Receptor, Melanocortin, Type 2 / Glucocorticoids / Homozygote Limits: Humans / Infant / Male Language: English Journal: Journal of Korean Medical Science Year: 2009 Type: Article