Endocrine Abstracts

Introduction: Osteogenesis imperfecta (OI) is classified on the basis of molecular genetics, mode of inheritance, clinical and radiological findings. The genes implicated are either COL1A1 or COL1A2. We report a case of a novel mutation of OI in the COL1A2 gene.Case: A 24-year-old teacher with type 1 Diabetes Mellitus, presented to our Endocrine Clinic with recurrent fractures since childhood. At 7 months old, she fractured her left leg. At...

CASE 1: A 50-year-old male was referred to the endocrine clinic with decreased libido and erectile dysfunction. Physical examination showed normal sense of smell, testicular size and secondary sexual characters. Investigations revealed low testosterone (10.6 mmol/l), SHBG 29.6 nmol/l, LH (6 IU/l) and FSH (7 IU/l) with high prolactin (4000 mU/l). The rest of the anterior pituitary hormones were normal. A MRI scan of the head showed a pituitary microadenoma with arachnoid cyst i...