Bone Abstracts

Objectives: Bone development can be enhanced by exercise during growth, but not all types of exercise may be beneficial. Weight bearing and non-weight bearing sports have different effects on bone outcomes during adolescence. However, there is no longitudinal evidence comparing the effects of popular sports in the UK on bone acquisition in adolescent males.Methods: In the present study 116 adolescent males (13.1±0.1 years: 37 footballers, 37 swimmer...

Introduction: Dentinogenesis imperfecta (DI) is a common dental aberration in patients with osteogenesis imperfecta (OI). Mutations that cause abnormal collagen chains will cause more serious types of OI and it has been claimed that DI should be a marker for qualitative defected collagen. It has also been supposed that normal development of teeth may be more dependent on normal α2(I) than normal α1(I) chains which are encoded by COLIA2 and COLIA1 ge...

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...

Background: Osteopetrosis (OP) is a bone disease which is characterized by increased bone density. Autosomal dominant osteopetrosis type II (ADO II, also called Albers-Schönberg disease) is the most common type and it is caused by heterozygous mutations in the chloride channel 7 (CLCN7) gene.Presenting problem: To present a patient with known medical and family history of osteopetrosis, who was diagnosed with Growth Hormone (GH) deficiency and was t...

Introduction: Osteoporosis is frequently associated with renal disease, namely the bone metabolism disturbances caused by secondary hyperparathyroidism of chronic kidney disease (CKD). The increased risk of fragility fractures is well demonstrated in patients with end-stage renal disease (ESRD). There is recent evidence that bone pathological changes start early in the course of CKD. Our aim is to evaluate whether chronic renal disease, before ESRD, is associated with bone fra...

Objectives: Bone mass development through childhood is very important for osteoporosis prevention during adulthood. Physical activity (PA) and/or exercise can influence positively bone matrix and its contents in pre-adolescents Sclerostin, a glycoprotein produced by osteocytes, promotes osteoclastic activity and it is associated with reduced bone formation. The purpose of this study was to describe the relationship between PA and sclerostin levels in pre-adolescent boys and gi...

Background and aim: Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of X-linked hypophosphatemia (XLH). Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: 39 children with XLH were switched from conventional therapy to burosumab (starting dose 0.4 mg/kg), because of following indications: non-responder to conventional ther...

Objective: Currently, majority of the osteoporotic patients are not diagnosed i) a new ultrasound based device (Bindex) has been recently introduced for osteoporosis (OP) screening and diagnostics at primary healthcare ii) Bindex measures cortical thickness and determines parameter called density index (DI). Thresholds for DI in OP assessment have been determined in Finnish-Caucasian (F-C) population (n=448) along the International Society of Clinical Densitometry (IS...

Background: Short stature is a very common reason for referral to a pediatric endocrinologist. Endocrine and non endocrine causes are involved. Short stature can be classified as symmetrical or non-symmetrical. Numerous monogenic causes of growth disorders have been identified.Presenting problem: To present two brothers with familial spondyloepiphyseal dysplasia presenting with short stature and very low growth velocity starting at the age of 8 years. Th...

Background: Hypophosphatemic Rickets is an inherited disorder characterized by defect in bone mineralization, mainly in long bones due to hypophosphatemia. The most common form is the X-linked form but other forms such as autosomal dominant hypophosphatemic rickets and tumor-induces osteomalacia are also described. Symptoms usually begin in infancy or early childhood and there is a large spectrum of abnormalities. The most severe form causes bowing of legs, bone deformities, b...