Primary Adrenal Insufficiency in a Newborn With Adrenal Hypoplasia Congenita Caused by a Mutation of the DAX1 Gene

초록

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal gland caused by deletion or mutation of the dosage-sensitive sex-reversal AHC critical region on the X chromosome, gene 1 (DAX1) gene. The DAX1 gene is expressed in the adrenal cortex, the pituitary gland, the hypothalamus, the testis, and the ovary. Most affected infants present with failure to thrive, salt wasting, and hypoglycemic seizure in early life. Immediate mineralocorticoid and glucocorticoid replacement is essen- tial. Most boys with AHC present with hypogonadotropic hypogonadism, resulting in failure to enter puberty and the need for testosterone treatment. However, a recent study revealed that the onset of puberty in boys with AHC can be variable, ranging from arrested or absent to precocious. We describe a case involving a newborn who presented with primary adrenal insufficiency due to a mutation of the DAX1 gene and was finally diagnosed with AHC.

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