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Review
. 2022 Aug 3:13:937793.
doi: 10.3389/fendo.2022.937793. eCollection 2022.

Adrenal hyperplasias in childhood: An update

Georgia Pitsava  1   2 , Constantine A Stratakis  2   3   4
Affiliations
Review

Adrenal hyperplasias in childhood: An update

Georgia Pitsava et al. Front Endocrinol (Lausanne). .

Abstract

Pediatric adrenocortical hyperplasias are rare; they usually present with Cushing syndrome (CS); of them, isolated micronodular adrenal disease and its variant, primary pigmented adrenocortical disease are the most commonly encountered. Most cases are due to defects in the cyclic AMP/protein kinase A (cAMP/PKA) pathway, although a few cases remain without an identified genetic defect. Another cause of adrenal hyperplasia in childhood is congenital adrenal hyperplasia, a group of autosomal recessive disorders that affect steroidogenic enzymes in the adrenal cortex. Clinical presentation varies and depends on the extent of the underlying enzymatic defect. The most common form is due to 21-hydroxylase deficiency; it accounts for more than 90% of the cases. In this article, we discuss the genetic etiology of adrenal hyperplasias in childhood.

Keywords: Cushing syndrome; adrenal cortex; adrenal hyperplasia; childhood tumors; congenital adrenal hyperplasia.

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Conflict of interest statement

Author CS holds patents on the PRKAR1A, PDE11A and GPR101 genes and/or their function and has received research funding from Pfizer Inc. on the genetics and treatment of abnormalities of growth hormone secretion. CAS is receiving compensation by ELPEN, Inc. Neither Pfizer, Inc nor ELPEN, Inc had any role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The remaining author declares that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Diagnostic algorithm for suspected Cushing syndrome. ACTH adrenocorticotropic hormone, CS Cushing syndrome, CT computed tomography, DDAVP desmopressin, MAD micronodular adrenal disease, MRI magnetic resonance imaging, PET positron emission tomography, 17OHS 17-hydroxysteroid. Reprinted from Constantine A. Stratakis. Cushing Syndrome in Pediatrics. Endocrinology and Metabolism Clinics of North America. Volume 41, Issue 4, December 2012, Pages 793-803, with permission from Elsevier.
See this image and copyright information in PMC

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