Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0023oc3.3 | Oral Communications 3 | BSPED2009

Mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter-3 protein (hENT3) is associated with pigmentary hypertrichosis; insulin dependent diabetes mellitus (PHID); short stature and hypogonadism

Padidela Raja , James Chela , Hennekam Raoul , Cliffe Simon , Roscioli Tony , Buckley Michael , Hussain Khalid

Background: PHID syndrome has been recently described as a unique syndrome characterised by pigmented hypertrichosis; non immune mediated insulin depended diabetes mellitus (DM). Other associated features of the syndrome include pancreatic exocrine insufficiency, short stature and hypogonadism.Aims: To identify the genetic basis of PHID syndrome in six patients from five unrelated families and to characterise the endocrine features associated with this s...