ABSTRACT
Major known causes of neonatal adrenal insufficiency are prolonged maternalsteroid use, adrenal hemorrhage from the perinatal stress and adrenogenital syndrome. Theoretically adrenal aplasia might be a cause of neonatal adrenal insufficiency but it has not been reported yet. We had experienced a case of adrenal aplasia in a 5 day-old male neonate whose chief complaint was hyperpigmentation. His laboratory findings were compatible with adrenal insufficiency and adrenal gland was not detected by the ultrasonography and thin section abdominal CT. We reported a case of adrenal aplasia with a brief review of the related literature.
Subject(s)
Humans , Infant, Newborn , Male , Adrenal Glands , Adrenal Insufficiency , Adrenogenital Syndrome , Hemorrhage , Hyperpigmentation , Tomography, X-Ray Computed , UltrasonographyABSTRACT
In adrenal insufficiency, recognition of the disease in its earlier phases may present a real challenge. The disease, if unrecognized and untreated, carries an almost uniformly poor and frequently fatal prognosis. We report a rare case of congenital adrenal aplasia accompanied by hyperpigmentation on the whole body surface. The diagnosis was confirmed by ACTH stimulation test and autopsy findings.