Journal article

Publication year: 2020

Pages: C9-C12

Journal: European journal of endocrinology

Volume number: 182

Issue number: 3

ISSN: 0804-4643

eISSN: 1479-683X

Open access status: Bronze

DOI Link: https://doi.org/10.1530/EJE-19-0995

Publisher: Oxford University Press

Abstract: 
Primary adrenal insufficiency (PAI) in children is mostly due to genetic defects. The understanding of the molecular genetics of the causes of adrenal insufficiency in the pediatric population has made significant progress during the last years. It has been shown that inherited PAI can lead to certain clinical manifestations and health problems in children beyond the adrenals. Organ dysfunctions associated with different forms of PAI in children include a wide range of organs such as gonads, brain, heart, bone, growth, bone marrow, kidney, skin, parathyroid, and thyroid. Diagnosing the correct genetic cause of PAI in children is therefore crucial to adequately control long-term treatment and follow-up in such patients.

Harvard Citation style: Kamrath, C. (2020) Beyond the adrenals: Organ manifestations in inherited primary adrenal insufficiency in children, European journal of endocrinology, 182(3), pp. C9-C12. https://doi.org/10.1530/EJE-19-0995

APA Citation style: Kamrath, C. (2020). Beyond the adrenals: Organ manifestations in inherited primary adrenal insufficiency in children. European journal of endocrinology. 182(3), C9-C12. https://doi.org/10.1530/EJE-19-0995