ESPE Abstracts

Aim: To determine whether adolescents born before 28 gestational weeks have an increased risk for renal impairment.Methods: Swedish infants, born before 28 gestational weeks in 2001 and 2002, were identified from a local register. A total of 16 children, 12 females and 4 males, were examined at 16–17 years of age with 51Cr-EDTA clearance. A comparison group (n=26) was used.Re...

We present the case of a now 20 months old female patient, in whom we diagnosed MAS on the basis of pseudoprecocious puberty and hypercorticism at the age of 10 months. Medical history and photodocumentation suggested that symptoms of hypercorticism were present soon after birth. At age 4 months thelarche had occurred, followed by vaginal bleeding at age 5 months. At first presentation at our outpatient clinic, the girl was severely short (-5 SDS), with only minimally advanced...

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...

Objective: Young women with Turner syndrome are known to be especially at risk for lost of follow-up. Recent literature indicates that there are disparities regarding transition readiness between different chronic conditions. To assess differences in transition readiness might be crucial for identifying special needs in specific patient cohorts when preparing for transfer to adult care. Our hypothesis was, that young women with Turner syndrome would score lowe...

Congenital adrenal hyperplasia (CAH) patients have a higher frequency of obesity, visceral adiposity, hyperinsulinism, insulin resistance and hyperandrogenism. There is increasing evidence that low vitamin D status is associated with impaired β-cell function, insulin resistance and impaired glucose tolerance.Objectives: This pilot aimed to determine the status of serum 25 (OH) D levels in CAH female patients who are followed up in Diabetes Endocrine...

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 ...

Context: Disorders of sexual development (DSD) are those medical conditions with abnormalities of sex chromosomes, gonads, internal ducts or external genitalia. Sex determination and differentiation is a process under genetic control, only partially explained. Genetic testing and identification of a cause in DSD is essential for a precise diagnosis and correct management and also has an important psychosocial motivation.Aim: To make a genomic analyse, us...

Background: Until now, altered balance of Th1 and Th2 immune cells has been postulated to play an important role in the pathogenesis of autoimmune thyroid diseases (AITD). However, recent studies on thyroid diseases have suggested a new role for Th17 cells that have been classified as a new lineage, distinct from Th1, Th2 and Treg cells. Despite wide interest, the role of Th17 cells in the pathogenesis of inflammatory and autoimmune diseases is still debated.<p class="abst...

Background: Cell-mediated initiation of enchondral ossification is essential for growth plate maturation. The matrix mineralization inhibitors matrix Gla protein (MGP) and osteocalcin (OC) represent key regulators of matrix mineralization and are highly expressed in growth plate chondrocytes. Pharmacological or nutritional phylloquinone (K1) depletion is known to affect skeletal mineralization by reduced gamma-carboxilisation of MGP and OC. Constituents of mineral matrix such ...