ESPE Abstracts

Background: Physical therapy plays a critical role in the multidisciplinary care of patients with rare bone disorders, such as osteogenesis imperfecta (OI). In Austria, similar to other European regions, the majority of OI patients depend on the availability of extramural (outpatient) therapists for their physical therapy needs. However, access to these therapists can be hindered by several factors, including long waiting times and the lack of coverage under p...

Background: IGSF1, located on chromosome Xq26 and highly expressed in Rathke´s pouch, pituitary and testes, codes for a plasma membrane immunoglobulin superfamily-1 glycoprotein. Mutations in IGSF1, first described in 2012, lead to IGSF1-deficiency, a unique combination of mild central hypothyroidism (prevalence 100%), macroorchidism (80%) and hypoprolactinemia (60%). Additional symptoms comprise delayed pubertal testosterone rise (80%)...