Searchable abstracts of presentations at key conferences in endocrinology

ea0063p112 | Calcium and Bone 1 | ECE2019

Bilateral hip fractures and osteoporosis in a 40-year old man – identification of a novel TMEM38B mutation causing osteogenesis imperfecta

Cederberg-Tamminen Henna , Bensch Frank V , Pekkarinen Tuula , Kroger Heikki , Schalin-Jantti Camilla

Context: It is mandatory to rule out secondary causes of osteoporosis in young adult males presenting with osteoporotic fractures. If no such causes are identified, it is important to remember that an underlying genetic defect might explain the phenotype. This has implications for treatment, follow-up, as well as screening of family members.Case: A 40-year old male (172 cm, 78 kg) with a past medical history of asthma and pollen allergies, initially pres...