Endocrine Abstracts

Background: Gaucher disease (GD) is the most common lysosomal storage disorder. The defect is deficiency of lysosomal glucocerebrosidase (GBA), due to biallelic mutations in GBA gene, characterized by the deposition of GBA in cells of the macrophage-monocyte system.Objective: To report clinical phenotypes of GD and correlate with GBA gene mutations, and to identify GBA gene mutation in patients diagnosed with GD in Montenegro.Metho...

Objective: In the early manifestation of type 1 diabetes (T1D) the process of bone mineralization is disrupted and the peak of bone mass is initially lower than in healthy individuals. In addition to low mineralization T1D may be a risk factor for a smaller bone size including the hip axis length (HAL). The aim of this study is to assess the HAL in women with T1D.Materials and methods: We examined 68 T1D women, age: 31(25–37.6)yrs., duration of diab...

The aim of study: Is to assess the frequency of occurrence of vertebral fractures (VFx) and their relationship with hip geometric parameters in type 2 diabetes mellitus (T2DM) postmenopausal women.Materials and methods: We examined 94 T2DM women, age: 59.6(55.1–63.2)yrs., duration of DM: 7(4.5–11)yrs., duration of menopause 8.5(4–13)yrs., HbA1c:7.3(6.6–9.8)%). The comparison group consisted of 89 women without DM (age:58.3 (52.8–...

Research object: Since type 1 diabetic (T1D) patients are at higher fracture risk in comparison to general population the aim of study was to assess, whether femur geometric parameters are connected with Fx in T1D females.Materials and methods: We examined 68 T1D 31 yrs. old (25–37.6) females with disease duration of 11 (7–17) yrs. and the average HbA1c equal to 8.5 (6.9–10.4) %. The control group consisted of 53 healthy age- and BMI-match...

Objective: The aim of this study is to assess the geometric parameters of the femur in patients with type 2 diabetes mellitus (T2DM) without osteoporosis.Materials and methods: There were examined totally 97 type 2 diabetic females. We included in our study 60 type 2 diabetic females without osteoporosis (T-score more than – 2.5 in axial skeleton), age: 56.9(53.8–60.9) yrs., duration of DM: 6.5(5–11.5)yrs., HbA1c: 8.6(6.9–10.1)%, BMI:...

Background: Osteopetrosis is a rare chronic bone disease with high bone mineral densitiy due to impaired osteoclast activity or development. Genetic mutations result in severe infantile (autosomal recessive, incidence 1:200,000) and less severe adult forms (autosomal-dominant osteopetrosis/ADO). The incidence is estimated at 1:20,000 for noninfantile forms. In adults osteopetrosis is often asymptomatic with increased risk for bone fracture. Treatment is symptom-based (e.g. cal...

Introduction: Diabetes mellitus is associated with an increased risk of osteoporotic fractures, which leads to an increased risk of disability and frailty.Aims: To assess the prevalence of frailty in type 2 diabetes and to analyze the relationship with bone mineral density (BMD) and Trabecular Bone Score (TBS), fracture risk and prevalent fractures.Methods: We carried out a cross-sectional study of 75 diabetic patients (65±7 y...