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

J. Aidan Carney, Josephine Ho, Kazuteru Kitsuda, William Francis Young, Constantine A. Stratakis

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1452-1463
Number of pages12
JournalAmerican Journal of Surgical Pathology
Volume36
Issue number10
DOIs
StatePublished - Oct 2012

Fingerprint

Cushing Syndrome
Hyperplasia
Adrenalectomy
Adrenal Glands
Mutation
Beckwith-Wiedemann Syndrome
Newborn Infant
Pathology
Weights and Measures

Keywords

  • Beckwith-Wiedemann syndrome
  • cytomegaly
  • fetal adrenal gland
  • hemihypertrophy
  • neonatal Cushing syndrome

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery

Cite this

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. / Carney, J. Aidan; Ho, Josephine; Kitsuda, Kazuteru; Young, William Francis; Stratakis, Constantine A.

In: American Journal of Surgical Pathology, Vol. 36, No. 10, 10.2012, p. 1452-1463.

Research output: Contribution to journalArticle

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