Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature
Primary adrenal insufficiency (PAI) in children is rare. It is mainly due to monogenetic disorders, with congenital adrenal hyperplasia being the most common cause in the first year of life. Although several inborn errors of metabolism (IEM) have been associated with PAI, increased awareness of PAI...
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| Language: | English |
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Elsevier
2025-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426925000473 |
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| author | Ariane De Preter Anne Rochtus Peter Witters Daisy Rymen |
| author_facet | Ariane De Preter Anne Rochtus Peter Witters Daisy Rymen |
| author_sort | Ariane De Preter |
| collection | DOAJ |
| description | Primary adrenal insufficiency (PAI) in children is rare. It is mainly due to monogenetic disorders, with congenital adrenal hyperplasia being the most common cause in the first year of life. Although several inborn errors of metabolism (IEM) have been associated with PAI, increased awareness of PAI in IEM among both metabolic specialists and endocrinologists may improve patient outcomes. Here, we present a case series of patients with PAI and an IEM. Through a literature review, we discuss the various IEM that have been associated with adrenal insufficiency and explore the pathophysiological mechanisms linking these IEM to PAI. Based on the available data, pitfalls in the diagnosis of PAI in IEM are discussed and recommendations for early diagnosis are suggested. In addition, a non-exhaustive list of susceptible IEM was elaborated to encourage screening for PAI in IEM and vice versa. |
| format | Article |
| id | doaj-art-5ae77ef3587c40d985eef1e1d877feba |
| institution | OA Journals |
| issn | 2214-4269 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj-art-5ae77ef3587c40d985eef1e1d877feba2025-08-20T02:36:00ZengElsevierMolecular Genetics and Metabolism Reports2214-42692025-06-014310123210.1016/j.ymgmr.2025.101232Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literatureAriane De Preter0Anne Rochtus1Peter Witters2Daisy Rymen3Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, BelgiumDepartment of Pediatric Endocrinology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Herestraat 49, 3000 Leuven, BelgiumCenter for Metabolic Diseases, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Herestraat 49, 3000 Leuven, BelgiumCenter for Metabolic Diseases, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Herestraat 49, 3000 Leuven, Belgium; Corresponding author at: Center for Metabolic Diseases, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.Primary adrenal insufficiency (PAI) in children is rare. It is mainly due to monogenetic disorders, with congenital adrenal hyperplasia being the most common cause in the first year of life. Although several inborn errors of metabolism (IEM) have been associated with PAI, increased awareness of PAI in IEM among both metabolic specialists and endocrinologists may improve patient outcomes. Here, we present a case series of patients with PAI and an IEM. Through a literature review, we discuss the various IEM that have been associated with adrenal insufficiency and explore the pathophysiological mechanisms linking these IEM to PAI. Based on the available data, pitfalls in the diagnosis of PAI in IEM are discussed and recommendations for early diagnosis are suggested. In addition, a non-exhaustive list of susceptible IEM was elaborated to encourage screening for PAI in IEM and vice versa.http://www.sciencedirect.com/science/article/pii/S2214426925000473Adrenal insufficiencyInborn errors of metabolism |
| spellingShingle | Ariane De Preter Anne Rochtus Peter Witters Daisy Rymen Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature Molecular Genetics and Metabolism Reports Adrenal insufficiency Inborn errors of metabolism |
| title | Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature |
| title_full | Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature |
| title_fullStr | Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature |
| title_full_unstemmed | Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature |
| title_short | Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature |
| title_sort | adrenal insufficiency in inborn errors of metabolism and vice versa case reports and review of the literature |
| topic | Adrenal insufficiency Inborn errors of metabolism |
| url | http://www.sciencedirect.com/science/article/pii/S2214426925000473 |
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