ESPE Abstracts

Hypophosphatasia (HPP) is a rare, inherited, systemic disease characterized by deficient tissue-nonspecific alkaline phosphatase activity. Common manifestations in children include impaired skeletal mineralization, short stature, and reduced physical function. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients of any age with pediatric-onset HPP. The utility of dual X-ray absorptiometry (DXA) as a diagnostic tool or measure of treatment effective...

Background: Dystrophinopathies, including Duchenne (DMD) and Becker (BMD) muscular dystrophy, are X-linked muscle wasting disorders caused by mutations in the dystrophin gene. Dystrophin deficiency compromises functional integrity of the muscle fibers leading to progressive weakness, accompanied by a gradual bone loss.Objective and hypotheses: This study’s goal was to evaluate the effect of whole body low magnitude vibration (WBLMV) on timed motor p...

Hypophosphatasia (HPP) is a rare, inherited, systemic disease caused by mutation(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP), resulting in deficient ALP activity. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset HPP. The global HPP Registry is an observational, prospective, multinational study (NCT02306720; EUPAS13514) established to collect real world clinical data from patients of a...

Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue non-specific alkaline phosphatase (TNSALP). In children, HPP has a heterogeneous clinical presentation, frequently with nonspecific musculoskeletal and systemic manifestations, often leading to misdiagnoses and substantial delays in diagnosis. Data from 323 children with confirmed HPP diagnosis (aged <18 years, ALP activity below the reference range and/or ALPL mut...

Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the cardiovascular and metabolic morbidity. The long term outcome in CAH was studied using the Swedish national CAH registry, 588 patients 335 females and 253 males, >80% with known severity of CAH; were compared with 100 controls per patient matched for sex, and year and place of birth. Information on mortalty, cause of death, ...

Introduction: Disorders of sex development (DSD) describes conditions affecting gonadal and adrenal function and therefore to large extent affect fertility. In some cases the gonads have been removed due to risk of malignancy. Information to the patients about their fertility and treatment options have not been optimal in the past.Objective: To describe fertility outcome in the different diagnostic groups of DSD and to assess to what extent assisted repr...

Background: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialists’...

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 224...

Objective(s): Type 1 Diabetes Mellitus (T1DM) is associated with poor bone health. It is shown that the increased fracture risk in T1DM is multifactorial. The aim of current study is to determine the body weight correlation with bone mineral density (BMD) in type 1 diabetic non-obese patients.Materials and Methods: To evaluate the factors associated with bone mineral density in type 1 diabetic patients a total of 45 pati...

Background: The recent evidence has shown that the skeleton can in turn affect carbohydrate metabolism.Objective and hypotheses: To analyse associations between serum level of sclerostin and as well other bone-related molecules as adipokines and some markers of glucose and lipid metabolism in children and adolescents.Method: 57 patients, 40 with type 1 diabetes mellitus (T1DM), 17 with obesity, and 11 control, healthy age- and BMI-...