ea0023oc3.3 | Oral Communications 3 | BSPED2009
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...