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Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy

Primary adrenal insufficiency (PAI) is often the first clinical sign of X-linked adrenoleukodystrophy (X-ALD), a rare genetic disorder that can present with various clinical phenotypes. A subset of boys with X-ALD develop cerebral ALD (cALD), characterized by progressive central demyelination, neuro...

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Autores principales: Wiersma, Rebecca E, Gupta, Ashish O, Lund, Troy C, Sarafoglou, Kyriakie, Pierpont, Elizabeth I, Orchard, Paul J, Miller, Bradley S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017996/
https://www.ncbi.nlm.nih.gov/pubmed/35450414
http://dx.doi.org/10.1210/jendso/bvac039
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author Wiersma, Rebecca E
Gupta, Ashish O
Lund, Troy C
Sarafoglou, Kyriakie
Pierpont, Elizabeth I
Orchard, Paul J
Miller, Bradley S
author_facet Wiersma, Rebecca E
Gupta, Ashish O
Lund, Troy C
Sarafoglou, Kyriakie
Pierpont, Elizabeth I
Orchard, Paul J
Miller, Bradley S
author_sort Wiersma, Rebecca E
collection PubMed
description Primary adrenal insufficiency (PAI) is often the first clinical sign of X-linked adrenoleukodystrophy (X-ALD), a rare genetic disorder that can present with various clinical phenotypes. A subset of boys with X-ALD develop cerebral ALD (cALD), characterized by progressive central demyelination, neurocognitive decline, and ultimately death. Timely intervention with hematopoietic cell transplant (HCT) can be a life-saving therapy by stopping progression of cerebral disease. We report the case of an 11-year-old boy with type 1 diabetes mellitus who presented with PAI, growth delay, and symptoms of attention deficit hyperactivity disorder. Given his history of T1DM, his PAI was presumed to be autoimmune and he was started on hydrocortisone and fludrocortisone. Eleven months later brain magnetic resonance imaging revealed white matter hyperintensity consistent with advanced cALD. The degree of disease progression at the time of diagnosis rendered the patient ineligible for transplant and he has continued to experience progressive neurologic decline. Initial symptoms of cALD are often subtle but should not be overlooked, as early identification of X-ALD is critical to allow early intervention with lifesaving HCT. PAI typically presents prior to the onset of neurologic symptoms. All boys who present with PAI should undergo workup for X-ALD with plasma very long chain fatty acid testing, even in the setting of underlying autoimmune disease.
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spelling pubmed-90179962022-04-20 Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy Wiersma, Rebecca E Gupta, Ashish O Lund, Troy C Sarafoglou, Kyriakie Pierpont, Elizabeth I Orchard, Paul J Miller, Bradley S J Endocr Soc Case Report Primary adrenal insufficiency (PAI) is often the first clinical sign of X-linked adrenoleukodystrophy (X-ALD), a rare genetic disorder that can present with various clinical phenotypes. A subset of boys with X-ALD develop cerebral ALD (cALD), characterized by progressive central demyelination, neurocognitive decline, and ultimately death. Timely intervention with hematopoietic cell transplant (HCT) can be a life-saving therapy by stopping progression of cerebral disease. We report the case of an 11-year-old boy with type 1 diabetes mellitus who presented with PAI, growth delay, and symptoms of attention deficit hyperactivity disorder. Given his history of T1DM, his PAI was presumed to be autoimmune and he was started on hydrocortisone and fludrocortisone. Eleven months later brain magnetic resonance imaging revealed white matter hyperintensity consistent with advanced cALD. The degree of disease progression at the time of diagnosis rendered the patient ineligible for transplant and he has continued to experience progressive neurologic decline. Initial symptoms of cALD are often subtle but should not be overlooked, as early identification of X-ALD is critical to allow early intervention with lifesaving HCT. PAI typically presents prior to the onset of neurologic symptoms. All boys who present with PAI should undergo workup for X-ALD with plasma very long chain fatty acid testing, even in the setting of underlying autoimmune disease. Oxford University Press 2022-04-12 /pmc/articles/PMC9017996/ /pubmed/35450414 http://dx.doi.org/10.1210/jendso/bvac039 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Wiersma, Rebecca E
Gupta, Ashish O
Lund, Troy C
Sarafoglou, Kyriakie
Pierpont, Elizabeth I
Orchard, Paul J
Miller, Bradley S
Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy
title Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy
title_full Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy
title_fullStr Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy
title_full_unstemmed Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy
title_short Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy
title_sort primary adrenal insufficiency in a boy with type i diabetes: the importance of considering x-linked adrenoleukodystrophy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017996/
https://www.ncbi.nlm.nih.gov/pubmed/35450414
http://dx.doi.org/10.1210/jendso/bvac039
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