Endocrine Abstracts

Background: Septo-optic dysplasia (SOD) is a rare congenital condition diagnosed in children with two or more of hypothalamo-pituitary axis dysfunction, midline brain abnormalities, and optic nerve hypoplasia. SOD has a heterogenous clinical phenotype, characterised by varying visual impairment and endocrine dysfunction. Autistic-like behaviours have also been reported in children with SOD, however the nature of these neurobehavioural impairments remain to be fully understood....

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...

Background: Craniopharyngioma is a benign tumour involving the hypothalamic and pituitary regions that are involved in the production and secretion of oxytocin. Research has shown that dysfunction of the oxytocin system is associated with neurobehavioural and metabolic outcomes, but less is known for its role in patients with craniopharyngioma, largely due to varied study designs and heterogenous methods of assessing the oxytocin system. This systematic review...