Endocrine Abstracts

Introduction: Male hypogonadism is a clinical syndrome comprising symptoms, signs and biochemical evidence of testosterone deficiency due to primary testicular failure or secondary pituitary/hypothalamic disease. Management may vary. This audit aimed to assess adherence to Endocrine Society Clinical Practice guidelines in investigation and management of male hypogonadism.Methods: Electronic patient records for 25 men with hypogonadism attending endocrino...

Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder of red blood cell aplasia characterized by normocytic or macrocytic anaemia and reticulocytopaenia. Short stature, of multifactorial aetiology, is often present. Some patients are glucocorticoid-responsive, while others remain transfusion-dependent leading to iron overload.Case Report: Asymmetrical growth restriction was present at birth. Aged ten weeks, severe anaemia developed. Bone marrow...

Familial isolated pituitary adenoma (FIPA) is an increasingly recognised cause of familial pituitary tumours with autosomal dominant inheritance. An increased population risk of AIP mutations has recently been reported in Ireland. We present the cases of three siblings, with likely AIP related disease, attending endocrinology clinics in Glasgow. Patient one has been confirmed to be an AIP mutation carrier.Patient 1 ...

Familial isolated pituitary adenoma (FIPA) is an increasingly recognised cause of familial pituitary tumours with autosomal dominant inheritance. An increased population risk of AIP mutations has recently been reported in Ireland. We present the cases of three siblings, with likely AIP related disease, attending endocrinology clinics in Glasgow. Patient one has been confirmed to be an AIP mutation carrier.Patient 1 ...

Introduction: As there are scarce data on the clinical case load and multidisciplinary input provided for patients with osteogenesis imperfecta (OI), we performed a survey of patients with OI attending bone and genetic clinics in Glasgow.Methods: Clinical details of 53 children(M:28) and 23 adults(M:9) were obtained by a review of case records.Results: The median age at presentation in children was 4.5 yrs (range 0.2–13.5), wi...