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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...

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Endocrine Abstracts

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

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