Endocrine Abstracts

Objective: HNF1A gene mutations are the most common cause of monogenic diabetes. Patients with HNF1A–MODY display sensitivity to sulphonylurea therapy, however the long term efficacy has yet to be established. There is also limited literature as to the prevalence of complications in this unique cohort. The aim of the study was to determine the natural progression of HNF1A–MODY diabetes in a dedicated MODY clinic.Design: n=60 H...

Standard Autonomic Function tests AFT may not detect subclinical CAN. Modalities exist (Frequency Domain) using PSA of HRV, which may detect subclinical CAN.We performed standard AFTs (HR response to deep breathing, Valsalva, Tilt at 1 min and 6 min) and PSA of HRV on these tests in 46 subjects (29 DM and 17 Controls) matched for age and sex. We sought to establish if those DM subjects considered normal by AFT would exhibit abnormalities in PSA of HRV. W...

Background: HNF1β mutations are one of the commonly identified genetic causes of renal malformations, but one of the less common forms of MODY. HNF1β is involved in the development of kidneys, liver, pancreas, intestine and urogenital tract. Patients can present with distinctive but highly variable clinical features. The aim of this study is to evaluate the clinical, biochemical and radiological variability of HNF1β variants and the challenge of management on th...