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Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim–Chester Disease (ECD) Vaid, Sonal; Estrada-Veras, Juvianee; Gahl, William A.; Patronas, Nicholas; Dave, Rahul H.; Hannah-Shmouni, Fady; O’Brien, Kevin; Shekhar, Skand
Abstract
Purpose: Erdheim–Chester disease (ECD) is an L Group Langerhans histiocytosis associated with pathogenic variants within the MAPK pathways, most commonly the BRAF gene. We analyzed prevalence, genetic, biochemical, and pituitary imaging features associated with arginine vasopressin deficiency (AVP-D), one of the most common endocrinopathies in ECD. Methods: A cross-sectional descriptive study of 61 subjects with ECD was conducted at a clinical research center from January 2011 to December 2018, with molecular genetics, baseline biochemical and pituitary endocrine function studies, and dedicated pituitary MRI (or CT) studies. AVP-D and anterior pituitary endocrinopathies (hypothyroidism, hypogonadism, adrenal insufficiency and panhypopituitarism) were assessed. Students’ t-tests, nonparametric tests, Fisher’s exact tests, and logistic regression were employed for analysis. Results: In total, 22 out of 61 subjects (36%; 19 males and 3 females) had AVP-D; 18 subjects with AVP-D were in active treatment with desmopressin. Those with versus without AVP-D were younger [mean (±SD): 50.00 (±10.45) vs. 56.72 (±10.45) years], had higher prevalence of BRAF V600E pathogenic variants [68% vs. 43%], lower IGF-1 [mean (±SD): 137.05 (±67.97) vs. 175.92 (±61.89) ng/mL], lower urine osmolality [416.00 (250.00–690.00) vs. 644.50 (538.75–757.75)) mOsm/kg], and a higher burden of central hypogonadism [81.82% vs. 36.00%], central hypothyroidism [23% vs. 2.5%], panhypopituitarism [41% vs. 0%], anterior pituitary endocrine deficits, absent posterior pituitary bright spots [63.64% vs. 20.51%], and abnormal pituitary imaging. In adjusted models, [OR (95%CI)] BRAF V600E mutation [7.38 (1.84–39.01)], central hypogonadism [6.193 (1.44–34.80)], primary hypothyroidism [13.89 (1.401–406.5)], absent posterior pituitary bright spot [12.84 (3.275–65.04)], and abnormal pituitary imaging [10.60 (2.844–48.29)] were associated with higher odds of having AVP-D. Conclusions: AVP-D is common in ECD and accompanied by a higher burden of pituitary endocrinopathies, BRAF V600E pathogenic variants, abnormal pituitary imaging, and absent posterior pituitary bright spots.
Item Metadata
Title |
Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim–Chester Disease (ECD)
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Creator | |
Publisher |
Multidisciplinary Digital Publishing Institute
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Date Issued |
2025-02-27
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Description |
Purpose: Erdheim–Chester disease (ECD) is an L Group Langerhans histiocytosis associated with pathogenic variants within the MAPK pathways, most commonly
the BRAF gene. We analyzed prevalence, genetic, biochemical, and pituitary imaging
features associated with arginine vasopressin deficiency (AVP-D), one of the most common endocrinopathies in ECD. Methods: A cross-sectional descriptive study of 61 subjects with ECD was conducted at a clinical research center from January 2011 to December 2018, with molecular genetics, baseline biochemical and pituitary endocrine function studies, and dedicated pituitary MRI (or CT) studies. AVP-D and anterior pituitary endocrinopathies (hypothyroidism, hypogonadism, adrenal insufficiency and panhypopituitarism) were assessed. Students’ t-tests, nonparametric tests, Fisher’s exact
tests, and logistic regression were employed for analysis. Results: In total, 22 out of
61 subjects (36%; 19 males and 3 females) had AVP-D; 18 subjects with AVP-D were in
active treatment with desmopressin. Those with versus without AVP-D were younger
[mean (±SD): 50.00 (±10.45) vs. 56.72 (±10.45) years], had higher prevalence of BRAF
V600E pathogenic variants [68% vs. 43%], lower IGF-1 [mean (±SD): 137.05 (±67.97)
vs. 175.92 (±61.89) ng/mL], lower urine osmolality [416.00 (250.00–690.00) vs. 644.50 (538.75–757.75)) mOsm/kg], and a higher burden of central hypogonadism [81.82% vs.
36.00%], central hypothyroidism [23% vs. 2.5%], panhypopituitarism [41% vs. 0%], anterior
pituitary endocrine deficits, absent posterior pituitary bright spots [63.64% vs. 20.51%],
and abnormal pituitary imaging. In adjusted models, [OR (95%CI)] BRAF V600E mutation
[7.38 (1.84–39.01)], central hypogonadism [6.193 (1.44–34.80)], primary hypothyroidism
[13.89 (1.401–406.5)], absent posterior pituitary bright spot [12.84 (3.275–65.04)], and abnormal pituitary imaging [10.60 (2.844–48.29)] were associated with higher odds of having
AVP-D. Conclusions: AVP-D is common in ECD and accompanied by a higher burden of
pituitary endocrinopathies, BRAF V600E pathogenic variants, abnormal pituitary imaging,
and absent posterior pituitary bright spots.
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Subject | |
Genre | |
Type | |
Language |
eng
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Date Available |
2025-04-14
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Provider |
Vancouver : University of British Columbia Library
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Rights |
CC BY 4.0
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DOI |
10.14288/1.0448404
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URI | |
Affiliation | |
Citation |
Cancers 17 (5): 824 (2025)
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Publisher DOI |
10.3390/cancers17050824
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Peer Review Status |
Reviewed
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Scholarly Level |
Faculty; Researcher
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Rights URI | |
Aggregated Source Repository |
DSpace
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Item Citations and Data
Rights
CC BY 4.0