Endocrine Abstracts

Fibrous dysplasia (FD) is a relatively uncommon condition presenting with combinations of focal bone abnormalities, cutaneous hyperpigmentation and endocrinopathy. It is caused by a post-zygotic mutation in a G-protein coupled receptor (GNAS1) leading to constitutive activation of several hormone signaling pathways. Severely affected patients present in childhood with extensive bone lesions+endocrine disorder e.g. premature puberty (McCune–Albright syndrome) but less seve...