ESPE Abstracts

Purpose: Anorexia nervosa (AN) increases the risk of impaired bone health, low areal bone mineral density (aBMD), and subsequent fractures. This study investigated the long-term effects on bone and biomarkers in young women with AN.Methods: Twenty-five Swedish female AN patients, median age 21.0 years (16.1 to 24.3 years), median BMI 15.4 kg/m2, were included, 22 patients completed a high-energy in-patient treatment for ...

Background: The incidence of Type 1 diabetes (T1D) is rising globally and fractures are common.Objective: To investigate bone health in young females with a T1D duration of at least 10 years in relation to healthy, matched controls.Subjects: Twenty-three Swedish females, aged 19.2– 27.9 years, with a T1D duration of ≥10 years, were recruited from the Swedish National Dia...

Purpose: Modified ketogenic diet (MKD) is one treatment option for intractable epilepsy and metabolic conditions such as glucose transporter type 1 deficiency syndrome (GLUT1-DS) and pyruvate dehydrogenase complex (PDC) deficiency. MKD is a less restrictive diet than the classical ketogenic diet (KD) and thus more tolerable. Childhood is an important period for bone acquisition. Some studies indicate a negative effect on bone mass during KD treatment, probably as a consequence...

Purpose: Modified ketogenic diet (MKD) is one treatment option for intractable epilepsy and metabolic conditions such as glucose transporter type 1 deficiency syndrome (GLUT1-DS) and pyruvate dehydrogenase complex (PDC) deficiency. MKD is a less restrictive diet than the classical ketogenic diet (KD) and thus more tolerable. Some studies indicate that prolonged KD treatment can negatively affect linear growth in children. Long-term data is missing regarding the effects of MKD ...

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-...