Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease

Christina Tatsi; Constantine A Stratakis

doi:10.1016/j.clp.2017.10.002

Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease

Clin Perinatol. 2018 Mar;45(1):103-118. doi: 10.1016/j.clp.2017.10.002. Epub 2017 Dec 12.

Authors

Christina Tatsi¹, Constantine A Stratakis²

Affiliations

¹ Section on Endocrinology and Genetics, Developmental Endocrine Oncology and Genetics Group, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD 20892, USA; Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD 20892, USA.
² Section on Endocrinology and Genetics, Developmental Endocrine Oncology and Genetics Group, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD 20892, USA; Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD 20892, USA. Electronic address: stratakc@mail.nih.gov.

Abstract

Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. More rarely, neonatal CS presents as part of other syndromes such as McCune-Albright syndrome or Beckwith-Wiedemann syndrome. Management usually includes resection of the primary tumor with or without additional medical treatment, but manifestations may persist after resolution of hypercortisolemia.

Keywords: Adrenal hyperplasia; Adrenocortical tumors; Cushing syndrome; Hypercortisolemia; Infant.

Published by Elsevier Inc.

Publication types

Review

MeSH terms

Adrenal Cortex / surgery
Adrenal Cortex Neoplasms / congenital*
Adrenal Cortex Neoplasms / diagnosis
Adrenal Cortex Neoplasms / metabolism
Adrenal Cortex Neoplasms / therapy
Adrenocortical Adenoma / congenital*
Adrenocortical Adenoma / diagnosis
Adrenocortical Adenoma / metabolism
Adrenocortical Adenoma / therapy
Adrenocortical Carcinoma / congenital*
Adrenocortical Carcinoma / diagnosis
Adrenocortical Carcinoma / metabolism
Adrenocortical Carcinoma / therapy
Chemotherapy, Adjuvant
Circadian Rhythm
Cushing Syndrome / congenital*
Cushing Syndrome / diagnosis
Cushing Syndrome / metabolism
Cushing Syndrome / therapy
Humans
Hydrocortisone / metabolism
Infant, Newborn

Substances

Hydrocortisone

Grants and funding

ZIA HD008920-05/Intramural NIH HHS/United States