Bone Abstracts

Introduction: Pregnancy- and lactation-associated osteoporosis (PLO) is an uncommon disease. The majority of cases are seen in the third trimester or early post-partum in the primagravid women and the prominent clinical feature of PLO is the severe and prolonged back pain and height loss. To date the prevalence and the aetiology of this disorder are unclear and there are no guidelines for its treatment.Case report: We report the outcomes of teri...

Introduction: Fibrous dysplasia (FD) of bone is a benign, non-inheritable disease characterized by bone pain, bone deformities and fractures. Its prevalence is ~1 in 30 000 individuals and diagnosis is based on the clinical and radiologic findings and is confirmed by biopsy. Yet, in some cases biopsy is not applicable.Case report: A young woman presented to our outpatient clinic with a history of pain localized at the distal half of the left tibia that h...

Introduction: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare form of inherited isolated renal phosphate wasting with two distinct clinical phenotypes; early-onset and late-onset. Late-onset ADHR is characterized by normal phosphate levels and growth during childhood, followed by osteomalacia with bone pain, pseudofractures and weakness in adolescence or adulthood, but with no lower extremity deformities. Most of the late-onset ADHR patients are women and pregnanc...

Objective: Idiopathic hypercalciuria (IH) is defined as excessive 24 h urinary calcium excretion (>4 mg/kg per 24 h), that persists after correction of dietary imbalances in the absence of secondary causes. Recent studies with DXA in children with IH provide evidence of decreased areal BMD. We used peripheral quantitative computed tomography (pQCT) of the tibia, to test the hypothesis that IH results in decreases of volumetric (mg/cm3) BMD of the trabecular and/...

Aim: We explored the hypothesis that idiopathic hypercalciuria (IH) causes increased bone loss in early post-menopausal women.Materials and methods: We studied 41 postmenopausal women with IH. Inclusion criteria: i) recently (<6 months) diagnosed and untreated IH, ii) postmenopausal status >2 years, and iii) normal renal function. Exclusion criteria: i) all causes of hypercalciuria other than IH and ii) use of any medication for osteoporosis 1-ye...

Aim: We present the case of a 36y female patient with multiple fragility fractures after the age of 21 and mutations in COL1A1, COL1A2 and GNAS genes.Material and methods: A 36y female patient with multiple fractures of the axial and appendicular skeleton was referred to us for consultation. The patient was born with hexadactyly of the left foot and had a history of mild thoracolumbar scoliosis (10°) and medium height (165 cm) with no other history ...

Objective: The objective of this observational cross-sectional study is to identify the prevalence of vitamin D deficiency in healthy women in Greece, as reflected by the levels of 25-hydroxyvitamin D (25(OH)D), since recent data indicate that vitamin D deficiency can be common in countries previously considered as low risk (e.g. Mediterranean countries).Materials and methods: A population of 840 community dwelling women was recruited at the health promo...

Objectives: To evaluate bone health and its possible correlations to body composition parameters in young patients with galactose metabolic disorders, aiming to suggest appropriate lifestyle interventions.Methods: We studied 22 patients, aged 5–16 years with galactose metabolic disorders, detected by neonatal screening. Fourteen suffered from classic galactosemia and eight from other galactose metabolic disorders (i.e. epimerase or galactokinase def...

Objectives: To evaluate bone status and body composition in patients with phenylketonuria and hyperphenylalaninemia.Methods: Eighty patients (48 with phenylketonuria and 32 with hyperphenylalaninemia), aged 5–18 years, early-diagnosed, underwent dual energy X-ray absorptiometry. Bone mineral density (lumbar spine and total body), bone strength (bone mineral content:lean tissue mass ratio), lean tissue mass, body fat percentage, and fat mass index we...

Background: Skeletal dysplasias include many pathological conditions that involve bone metabolism and health and most of them are associated with short stature. 211 genes are associated with bone dysplasia and short stature. Presenting problem: To present a boy with severe short stature and skeletal abnormalities. He was born at term AGA. Growth failure was noted from the age of 8 months. IGF-I levels were low and he was tested for growth hormone deficie...