Endocrine Abstracts

The index patient is a 40 year old male with BPES (Blepharophimosis, Ptosis, Epicanthus inversus Syndrome) associated with isolatedgrowth hormone deficiency. BPES is a rare genetic disease occurring either sporadically or as an autosomal dominant disorder. There are two phenotypes; in type 1, eyelid abnormalities are associated with ovarian failure and in type 2 eyelid abnormalitiesonly. The genes for both types have been mapped ...