Endocrine Abstracts

Introduction: 3M syndrome is a rare autosomal recessive condition that causes short stature, unusual facial features and skeletal abnormalities with normal intelligence. Mutations in CUL7, OBSL1 and CCDC8 genes have been identified as pathogenic. GH treatment outcomes for 3M syndrome appear controversial. Use of human recombinant GH for the treatment of short stature has been trialled in previous studies with some suggesting dysregulation in GH/IGF1 axis while others report no...

Background: Pubertal induction with incremental doses of oestrogen replacement is an important component of care offered to hypogonadal patients with Turner Syndrome (TS). Low dose oral ethinylestradiol (EE) has been extensively used in the UK but natural 17-β oestradiol (more physiological, cheaper and easily monitored in blood) is becoming increasingly popular. We undertook this audit to compare the efficacy and acceptability of oral (EE) and patch (Evorel) oestrogen pr...

Introduction: Adrenal insufficiency is a rare cause of life-threatening hyponatraemic collapse in the neonatal period. The initial investigations taken at the time of presentation, and prior to the institution of hydrocortisone, are a key step in the diagnostic pathway.Aim: We present a case series where the initial biochemical test results could have led to a delay in diagnosis or early discontinuation of hydrocortisone.Ca...

Background: Nutritional rickets (NR), due to poor dietary calcium intake or vitamin D deficiency is still the most common form of growing bone disease despite the efforts of health care providers to reduce its incidence. Clinical history, physical examination and laboratory evaluation are mainstay of diagnosis.Aim: We report a case of NR where the radiological report was misleading causing significant parental anxiety and delay in diagnosis.<p class=...