Endocrine Abstracts

Introduction: We describe a novel case of familial congenital aniridia in a Caucasian woman with associated insulin requiring diabetes mellitus. This human combination has been described in Asian families in association with a heterozygous Paired Box 6 (PAX6) mutation (1) with subsequent evidence supporting that the mutation in this transcription factor causes decreased Proconvertase 1/3 function in the pancreas and a high proinsulin to insulin ratio (2). Our case does not hav...

Hereditary nephrogenic diabetes (di/di) in mice results from a failure of vasopressin (VP)action caused by overactive renal cAMP phosphodiesterase activity. The adult animals pass large amounts of dilute (100 mOsm per kg) urine and have hyperosmotic plasma (40 mOsm per kg greater than wild-type). Their osmotic status is therefore similar to that in Brattleboro rats in which both VP and oxytocin (OT) neurons are hyperactive and the neural lobe is depleted of both OT and VP. The...

A 30-year-old woman with long standing type 1 diabetes presented with recurrent severe hypoglycaemia. One month earlier she had given birth to her first child. Before pregnancy her HbA1c had been 7.8 to 9.2 percent (RR 3.1 to 5.0 percent) but improved by the third trimester to 6.8 percent. Before pregnancy her total daily insulin dose was 50 units and by the third trimester it had only increased by 25 percent to 60 units. The pregnancy and birth were uneventful with no hypogly...

A 77 year old man developed a severe progressive polyneuropathy associated with significant disability. He was also found to have type 2 diabetes mellitus and antibody-negative primary hypothyroidism and was treated with gliclazide and thyroxine to good effect. Nerve conduction studies showed a demyelinating type neuropathy that was not typical of diabetic neuropathy. Two years later he was admitted with an episode of severe hypoglycaemia accompanied by low blood pressure, hyp...