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Paediatric Cushing's disease - a literature review of epidemiology, pathogenesis, clinical symptoms, and diagnostics.

Authors
  • Pasternak-Pietrzak, Katarzyna1
  • Moszczyńska, Elżbieta2
  • Jurkiewicz, Elżbieta3
  • Szalecki, Mieczysław2, 4
  • 1 Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland. [email protected] , (Poland)
  • 2 Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland. , (Poland)
  • 3 Department of Radiology, The Children's Memorial Health Institute, Warsaw, Poland. , (Poland)
  • 4 Collegium Medicum of Jan Kochanowski University, Kielce, Poland. , (Poland)
Type
Published Article
Journal
Endokrynologia Polska
Publication Date
Jan 01, 2020
Volume
71
Issue
1
Pages
87–95
Identifiers
DOI: 10.5603/EP.a2019.0040
PMID: 32129467
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Cushing's disease (CD) is characterised by excess production of adrenocorticotropic hormone (ACTH) by a pituitary corticotroph adenoma, which results in hypercortisolaemia. CD is extremely rare in the paediatric population, and few paediatric endocrinology centres have experience in diagnosing and treating this disease. The clinical presentation of hypercortisolaemia is variable, so proper and rapid diagnosis of CD is often challenging. The molecular pathogenesis of CD was largely unknown until recently. The latest research has revealed somatic mutations in the USP8 gene as the most common pathogenic molecular variants of this disease. Herein, we describe the current state of knowledge of paediatric CD epidemiology, molecular pathogenesis, clinical symptoms, and diagnostics.

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