ECE2024 Eposter Presentations Adrenal and Cardiovascular Endocrinology (155 abstracts)
Does tenascin-X correlate with adrenal dysfunction in patients with Ehlers–Danlos syndrome?
Domański Jan 1,2 , Babula Emilia 1,2 , Poprawa Iga 1,2 , Żuk-Łapan Aleksandra 1,2 , Podstawka Jakub 1,2 , Julia Latocha 1,2 , Zuzanna Szymańska 1,2 , Zagozda Małgorzata 3 , Wilk Juliusz 3 , Korcz Tomasz 3 , Cicha-Brzezińska Małgorzata 3 , Siejka Anna 4 , Mruk Bartosz 5 , Walecki Jerzy 6 , Bernadetta Kaluza 1,2 & Franek Edward 1,2,7
1National Medical Institute of the Ministry of the Interior and Administration, Department of Internal Medicine, Endocrinology and Diabetology, Warsaw, Poland; 2National Medical Institute of the Ministry of the Interior and Administration, Students Scientific Group of the Medical University of Warsaw at the Department of Internal Medicine, Endocrinology and Diabetology, Warsaw, Poland; 3National Medical Institute of the Ministry of the Interior and Administration, Laboratory Diagnostic Center, Warsaw, Poland; 4The Children’s Memorial Health Institute, Department of Clinical Biochemistry, Diagnostic of Metabolism and Steroidogenesis Disorders Lab, Warsaw, Poland; 5National Medical Institute of the Ministry of the Interior and Administration, Department of Radiology, Warsaw, Poland; 6National Medical Institute of the Ministry of the Interior and Administration, Department of Radiology, Centre of Postgraduate Medical Education, National Institute of Medicine of the Ministry of the Interior and Administration, Warsaw, Poland., Warsaw, Poland; 7Mossakowski Medical Research Centre Polish Academy of Sciences, Warsaw, Poland, Department of Human Epigenetics, Warsaw, Poland
Background: Ehlers–Danlos syndrome is a group of genetic conditions characterized by alterations in connective tissue structure, which produces various symptoms. Some subtypes of this syndrome are associated with structural alterations of tenascin-X, an extracellular matrix glycoprotein encoded by the TNXB gene, which partially overlaps the CYP21A2 gene, which encodes adrenal 21-hydroxylase. The purpose of this study was to assess the relationship between tenascin-X levels and adrenal hormones in female patients with Ehlers–Danlos syndrome.
Material and methods: The purpose of this study was to prospectively assess 30 female patients, aged 20–53 years, with hypermobile or classical Ehlers–Danlos syndrome. All patients underwent tests of their tenascin-X levels as well as adrenocorticotropic hormone (ACTH), cortisol, androstendion, and 17-hydroxyprogesterone levels, and urine steroid profile, and magnetic resonance imaging of the adrenal glands.
Results: The study showed no statistically significant correlation between tenascin-X levels and either of the following: 17-hydroxyprogesterone (rs -0.02, P=0.933), cortisol (rs 0.18, P=0.346), ACTH (rs 0.22, P=0.233), androstendion (rs 0.244, P=0.194). There was a positive correlation between tenascin-X levels and dehydroepiandrosterone sulfate (DHEA-S) (rs 0.362, P=0.049). Univariate logistic regression demonstrated that tenascin-X cannot be a predictor of late-onset congenital adrenal hyperplasia (OR 0.49, 95% CI 0–1.3, P=0.99).
Conclusions: Tenascin-X levels show no significant correlation with 17-OH-progesterone levels and show a positive correlation with DHEA-S levels. However, the study did not demonstrate tenascin-X to be a predictor of late-onset congenital adrenal hyperplasia in women with Ehlers–Danlos syndrome.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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