open access

Vol 71, No 1 (2020)
REVIEWS — Postgraduate Education
Published online: 2020-02-24
Submitted: 2019-06-05
Accepted: 2019-07-08
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Paediatric Cushing’s disease — a literature review of epidemiology, pathogenesis, clinical symptoms, and diagnostics

Katarzyna Pasternak-Pietrzak, Elżbieta Moszczyńska, Elżbieta Jurkiewicz, Mieczysław Szalecki
DOI: 10.5603/EP.a2019.0040
·
Pubmed: 32129467
·
Endokrynologia Polska 2020;71(1):87-95.

open access

Vol 71, No 1 (2020)
REVIEWS — Postgraduate Education
Published online: 2020-02-24
Submitted: 2019-06-05
Accepted: 2019-07-08

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.

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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Keywords

Cushing’s disease; pituitary adenoma; hypercortisolaemia; Cushing’s syndrome; growth retardation; weight gain

About this article
Title

Paediatric Cushing’s disease — a literature review of epidemiology, pathogenesis, clinical symptoms, and diagnostics

Journal

Endokrynologia Polska

Issue

Vol 71, No 1 (2020)

Pages

87-95

Published online

2020-02-24

DOI

10.5603/EP.a2019.0040

Pubmed

32129467

Bibliographic record

Endokrynologia Polska 2020;71(1):87-95.

Keywords

Cushing’s disease
pituitary adenoma
hypercortisolaemia
Cushing’s syndrome
growth retardation
weight gain

Authors

Katarzyna Pasternak-Pietrzak
Elżbieta Moszczyńska
Elżbieta Jurkiewicz
Mieczysław Szalecki

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