Endocrine Abstracts

Background: Cardiofaciocutaneous (CFC) syndrome is a rare disorder characterised by multiple abnormalities including congenital heart disease, craniofacial dysmorphology, ectodermal abnormalities, developmental delay, and epilepsy. Case reports of growth hormone (GH) deficiency, hyperprolactinemia, and precious puberty have been reported in association with CFC syndrome. A recent case series and gene knockout study highlighted the mechanistic role of CFC syndr...