ESPE Abstracts

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

Background: It has been shown that a proportion of relatives with multiple islet auto antibodies do not develop diabetes for many years, indicating that a more accurate marker of advanced insulitis is needed.Objective and Hypotheses: We evaluated whether the level of HbA1c can discriminate children at risk of T1D onset in a cohort of auto antibody positive relatives.Method: A total of 74 subjects <18 years of age who were parti...

Background: Raising a child diagnosed with type 1 diabetes can have a profound impact on parents. Having to combine the demands of the disease and treatment with every day parenting tasks can be overwhelming. Easy accessible communication with healthcare professionals was found to support parents in adequately coping with the disease and the disease self-management in everyday life, as well as peer support and tailored disease information. The Internet is regarded to be a suit...

Background: Short stature homeobox-containing gene (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. SHOX mutations and PAR1 deletions encompassing SHOX or its upstream/downstream enhancers have been identified in ~60% of Léri-Weill dyschondrosteosis (LWD) and ~5–15% of idiopathic short stature (ISS) patients. Recently SHOX duplications have been described in LWD/ISS individuals.Case presentation: The boy was ...

Background: The growth process that transforms a newborn into an adult implies that there is not only an increase in height but above all a constant change in body proportions. Knowledge of the body proportions gives insight into the natural process of maturation and any disturbance can be used as a diagnostic tool.Objective and hypotheses: Manual measurement of body dimensions is a highly time-consuming procedure requiring a variety of measurement tools...

Background: Children with myelomeningocele (MMC) run an increased risk of developing early or precocious puberty (E/PP). In previous studies of such children we found that the incidence of E/PP was 52% in girls and 21% in boys and that E/PP was strongly associated with increased intracranial pressure perinatally. It is also known that the occurrence of hydrocephalus without MMC is associated with risk of E/PP.Objective and hypotheses: The aim was to stud...

Aim: This study investigated rhythmical massage therapy (RMT) and heart rate variability-biofeedback (HRV) to treat dysmenorrhea.Methods: As a part of a randomized controlled trial, 60 patients were allocated to one of the two intervention groups or the crossover control group. For the qualitative study, before and after the 3-month intervention, the women drew their pain into a body silhouette. With the aid of these drawings, half-structured interviews ...

Background: Recently a heterozygote mutations in the gene ACAN coding the protein aggrecan has been described as a cause of familiar short starture combined with accelerated bone age. The aggrecan is an extracellular proteoglycan in cartilage of growth plates and plays an important role in biological and biomechanical properties of cartilage.Objective and hypotheses: To provide a genetic screening of ACAN within the families with familiar short stature a...

Background: Increased fracture risk and decreased bone mineral density (BMD) have been demonstrated by several studies in Turner syndrome (TS). However, longitudinal data on BMD development in childhood and adolescence and a reliable densitometric predictor of fractures in TS are still lacking.Objective and hypotheses: Our aim was to longitudinally assess BMD in paediatric TS patients and test whether trabecular BMD development over six years of observat...

Background: Kabuki syndrome (KS; OMIM 147920) is a congenital anomaly/intellectual disability syndrome caused by a mutation in the KMT2D or KDM6A gene. Children with KS have a spectrum of clinical features, but one of the key features in KS patients is postnatal growth retardation. GH deficiency has been reported in some children with KS, but no structural research is done in this field.Objective and hypotheses: We studied the growth ho...