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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