Searchable abstracts of presentations at key conferences in endocrinology

ea0030p21 | (1) | BSPED2012

Pigmentary hypertrichosis and non-autoimmune insulin dependent diabetes mellitus syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome

Senniappan Senthil , Shah Pratik , Hughes Marina , Brogan Paul , Hussain Khalid

Introduction: Mutations in SLC29A3 lead to PHID and H syndromes, familial Rosai Dorfman Disease and Histiocytosis-lymphadenopathy plus syndrome. PHID syndrome is associated with short stature, pubertal delay, endocrine and exocrine pancreatic insufficiency. We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes and cardiomyopathy.Case report: A 12-year-old girl with PHID syndrome presented with shortness ...

ea0027p56 | (1) | BSPED2011

Pigmented hypertrichosis and insulin dependent diabetes mellitus (PHID) syndrome is associated with chronic inflammation and involves the NF-kB response pathway of inflammation

James Chela , Eaton Simon , Brogan Paul , Hussain Khalid

Background: Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome is an autosomal recessive disorder due mutations in SLC29A3. SLC29A3 encodes for an equilibrative nucleoside transporter 3 (ENT 3). A hallmark of PHID syndrome is the chronic inflammation characterised by the persistently raised erythrocyte sedimentation rate and C-reactive protein. A key pathway involved in triggering inflammation is the nuclear factor kappa β (N...