Buonocore, F;
McGlacken-Byrne, SM;
Del Valle, I;
Achermann, JC;
(2020)
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.
Frontiers in Pediatrics
, 8
, Article 619041. 10.3389/fped.2020.619041.
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Abstract
Adrenal insufficiency (AI) is a potentially life-threatening condition that can be difficult to diagnose, especially if it is not considered as a potential cause of a child’s clinical presentation or unexpected deterioration. Children who present with AI in early life can have signs of glucocorticoid deficiency (hyperpigmentation, hypoglycemia, prolonged jaundice, poor weight gain), mineralocorticoid deficiency (hypotension, salt loss, collapse), adrenal androgen excess (atypical genitalia), or associated features linked to a specific underlying condition. Here, we provide an overview of causes of childhood AI, with a focus on genetic conditions that present in the first few months of life. Reaching a specific diagnosis can have lifelong implications for focusing management in an individual, and for counseling the family about inheritance and the risk of recurrence
| Type: | Article |
|---|---|
| Title: | Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant |
| Location: | Switzerland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fped.2020.619041 |
| Publisher version: | https://doi.org/10.3389/fped.2020.619041 |
| Language: | English |
| Additional information: | This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | adrenal insufficiency, Addison’s disease, adrenal hypoplasia, congenital adrenal hyperplasia, glucocorticoid, DAX-1, MIRAGE syndrome, genetic testing |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10118904 |
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