Endocrine Abstracts

Introduction: 24-hydroxylase, encoded by a CYP24A1 gene, is a crucial enzyme entailed in catabolism of vitamin D. Loss-of-function mutations of CYP24A1 result in hypercalcemia, not adequately concomitant high levels of 1,25(OH)2D and low PTH levels. The variety of clinical manifestations depends on age – mutations can lead to fatal infantile hypercalcemia among neonates (typically precipitated by supplementation of vitamin D), whereas adults’ symptoms are usually mil...

Background: Collagen, whose biosynthesis is regulated by thyroid hormones, is the most abundant connective tissue protein. Ehlers–Danlos syndrome alters collagen structure, which may affect bone mineral density (BMD). The purpose of this study was to assess the effect of autoimmune thyroiditis on BMD in females with Ehlers–Danlos syndrome.Material and methods: The study involved a prospective assessment of 30 female patients, aged 20–53 ye...

Background: Ehlers–Danlos syndrome is a group of genetic diseases characterized by alterations in connective tissue structure, which may lead to increased bone mass loss and predispose to osteopenia and osteoporosis. The effect of obesity on bone mass loss is inconclusive. The purpose of this study was to assess the relationship between obesity and bone mineral density (BMD) in women with Ehlers–Danlos syndrome.Material and methods: The study i...

Background : Ehlers–Danlos syndrome encompasses a group of genetic conditions characterized by alterations in connective tissue structure, with the consequent increased risk of developing osteopenia, osteoporosis, and incurring fractures. Maintaining vitamin D levels within normal limits is known to play an important role in preventing these complications, which seems to be particularly important in patients with Ehlers–Danlos syndrome. The purpose of this study was ...

Background: Collagen, whose biosynthesis is regulated by thyroid hormones, is the most abundant connective tissue protein. Ehlers–Danlos syndrome alters collagen structure, which may affect bone mineral density (BMD). The purpose of this study was to assess the effect of autoimmune thyroiditis on BMD in females with Ehlers–Danlos syndrome. Material and methods: The study involved a prospective assessment of 30 female patients, aged 20–53 y...

Background: The alterations in collagen synthesis and connective tissue structure that occur in Ehlers–Danlos syndrome translate to an increased risk of bone mass loss and development of osteopenia and osteoporosis, which may be evaluated with bone turnover biomarkers. Some subtypes of Ehlers–Danlos syndrome are associated with structural alterations in the extracellular matrix glycoprotein tenascin-X. The purpose of this study was to assess the relationship between ...

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 level...