title: Massive neonatal adrenal enlargement due to cytomegaly, persistence of the transient cortex, and hyperplasia of the permanent cortex: findings in Cushing syndrome associated with hemihypertrophy.
abstract: Described in this article is the massive enlargement of both adrenal glands in 3 newborns-2 girls and 1 boy. Two had hemihypertrophy and other congenital abnormalities but no identified genetic mutation; the third had genetically proven Beckwith-Wiedemann syndrome. Two had severe Cushing syndrome, the third had hypercortisolemia but no clinical Cushing syndrome. Bilateral adrenalectomy cured Cushing syndrome in the 2 with severe symptoms; total adrenal weight in these patients was 44 and 53 g, respectively. Unilateral adrenalectomy was performed in the third patient: the gland weighed 52 g; postoperatively, the patient's hypercortisolemia normalized, and, concomitantly, the enlarged contralateral adrenal gland had a 5-fold decrease in size with slight enlargement 6 years postoperatively. Microscopically, the 3 patients had similar pathology: massive adrenal enlargement due to a combination of cytomegaly, persistence of the transient cortex, and hyperplasia of the permanent cortex. The pathologic findings were most likely the result of the genetic mutation identified in 1 patient and of an unknown mutation in the remaining 2 patients.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. carney.aidan@mayo.edu
authors.forename: J Aidan
authors.initials: JA
authors.lastname: Carney
authors.forename: Josephine
authors.initials: J
authors.lastname: Ho
authors.forename: Kazuteru
authors.initials: K
authors.lastname: Kitsuda
authors.forename: William F
authors.initials: WF
authors.lastname: Young
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D000302:Adrenal Cortex / Q000473:pathology*; D000315:Adrenalectomy; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics; D003480:Cushing Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D005865:Gestational Age; D006801:Humans; D006965:Hyperplasia; D006984:Hypertrophy; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009154:Mutation; D016896:Treatment Outcome