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Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications

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cris.virtual.author-orcid0000-0002-6085-4855
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cris.virtualsource.author-orcid20258df6-7058-4f33-9a7a-ab392117b6f3
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dc.abstract.enGaucher disease (GD), the most common ultra-rare metabolic disorder, results from lipid accumulation. Systemic inflammation, cellular stress, and metabolic dysfunction may influence endocrine function, including the thyroid. This study evaluated thyroid function and morphology in 60 GD patients, alongside carbohydrate and lipid metabolism. Anthropometric, biochemical, and hormonal tests were conducted, including thyroid ultrasound and shear-wave elastography (SWE). Clinical data, bone mineral density (BMD), and body composition (BOD POD) analyses were correlated. Healthy controls, matched for age, sex, and body mass index (BMI), were included. GD patients had higher thyroid stimulating hormone (TSH) and free thyroxine (FT4) levels within normal limits. Hypothyroidism occurred in 7%, elevated anti-thyroid antibodies in 8%, and nodular goiter in 23%. Patients with nodular goiter showed lower platelet counts and higher chitotriosidase and glucosylsphingosine (lysoGb-1) levels. Patients with type 3 GD had larger thyroid volumes and greater stiffness on SWE than patients with type 1 GD. GD patients also exhibited increased metabolic risk, including central obesity and elevated glucose levels. GD patients, despite normal thyroid hormone levels, exhibit subtle alterations in thyroid function indicators. Their increased risk of central obesity and glucose metabolism disorders, alongside higher TSH and FT4 levels, underscores the need for closer monitoring and further investigation.
dc.affiliationWydział Nauk o Żywności i Żywieniu
dc.affiliation.instituteKatedra Żywienia Człowieka i Dietetyki
dc.contributor.authorKałużna, Małgorzata
dc.contributor.authorSzczepanek-Parulska, Ewelina
dc.contributor.authorMoczko, Jerzy
dc.contributor.authorCzłapka-Matyasik, Magdalena
dc.contributor.authorKatulska, Katarzyna
dc.contributor.authorZiemnicka, Katarzyna
dc.contributor.authorKieć-Wilk, Beata
dc.contributor.authorRuchała, Marek
dc.date.access2025-02-17
dc.date.accessioned2025-02-17T11:40:12Z
dc.date.available2025-02-17T11:40:12Z
dc.date.copyright2024-12-20
dc.date.issued2024
dc.description.abstract<jats:p>Gaucher disease (GD), the most common ultra-rare metabolic disorder, results from lipid accumulation. Systemic inflammation, cellular stress, and metabolic dysfunction may influence endocrine function, including the thyroid. This study evaluated thyroid function and morphology in 60 GD patients, alongside carbohydrate and lipid metabolism. Anthropometric, biochemical, and hormonal tests were conducted, including thyroid ultrasound and shear-wave elastography (SWE). Clinical data, bone mineral density (BMD), and body composition (BOD POD) analyses were correlated. Healthy controls, matched for age, sex, and body mass index (BMI), were included. GD patients had higher thyroid stimulating hormone (TSH) and free thyroxine (FT4) levels within normal limits. Hypothyroidism occurred in 7%, elevated anti-thyroid antibodies in 8%, and nodular goiter in 23%. Patients with nodular goiter showed lower platelet counts and higher chitotriosidase and glucosylsphingosine (lysoGb-1) levels. Patients with type 3 GD had larger thyroid volumes and greater stiffness on SWE than patients with type 1 GD. GD patients also exhibited increased metabolic risk, including central obesity and elevated glucose levels. GD patients, despite normal thyroid hormone levels, exhibit subtle alterations in thyroid function indicators. Their increased risk of central obesity and glucose metabolism disorders, alongside higher TSH and FT4 levels, underscores the need for closer monitoring and further investigation.</jats:p>
dc.description.accesstimeat_publication
dc.description.bibliographyil., bibliogr.
dc.description.financepublication_nocost
dc.description.financecost0,00
dc.description.if4,9
dc.description.number24
dc.description.points140
dc.description.versionfinal_published
dc.description.volume25
dc.identifier.doi10.3390/ijms252413636
dc.identifier.eissn1422-0067
dc.identifier.issn1661-6596
dc.identifier.urihttps://sciencerep.up.poznan.pl/handle/item/2490
dc.identifier.weblinkhttps://www.mdpi.com/1422-0067/25/24/13636
dc.languageen
dc.pbn.affiliationfood and nutrition technology
dc.relation.ispartofInternational Journal of Molecular Sciences
dc.relation.pagesart. 13636
dc.rightsCC-BY
dc.sciencecloudsend
dc.share.typeOPEN_JOURNAL
dc.subject.enGaucher disease (GD)
dc.subject.enthyroid
dc.subject.enhypothyroidism
dc.subject.ennodular goiter
dc.subject.enchitotriosidase
dc.subject.englucosylsphingosine (lysoGb-1)
dc.subject.enmetabolism
dc.subject.englucose
dc.subject.enelastography
dc.subject.enshear-wave elastography (SWE)
dc.titleThyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications
dc.typeJournalArticle
dspace.entity.typePublication
oaire.citation.issue24
oaire.citation.volume25