TY - JOUR
T1 - Massive neonatal adrenal enlargement due to cytomegaly, persistence of the transient cortex, and hyperplasia of the permanent cortex
T2 - Findings in cushing syndrome associated with hemihypertrophy
AU - Carney, J. Aidan
AU - Ho, Josephine
AU - Kitsuda, Kazuteru
AU - Young, William F.
AU - Stratakis, Constantine A.
N1 - Copyright:
Copyright 2013 Elsevier B.V., All rights reserved.
PY - 2012/10
Y1 - 2012/10
N2 - 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.
AB - 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.
KW - Beckwith-Wiedemann syndrome
KW - cytomegaly
KW - fetal adrenal gland
KW - hemihypertrophy
KW - neonatal Cushing syndrome
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U2 - 10.1097/PAS.0b013e31825d538b
DO - 10.1097/PAS.0b013e31825d538b
M3 - Article
C2 - 22982888
AN - SCOPUS:84866619292
SN - 0147-5185
VL - 36
SP - 1452
EP - 1463
JO - American Journal of Surgical Pathology
JF - American Journal of Surgical Pathology
IS - 10
ER -