Endocrine Abstracts

Introduction: Heterozygous inactivating mutations in the maternal allele of the GNAS gene typically result in pseudohypoparathyroidism (PHP). GNAS variants were recently described in 1% of patients, not known to have PHP, in the UK Genetics of Obesity cohort, resulting in reduced MC4R signalling and variable effects on PTH-R and GHRH-R signalling.Methods: NGS (Cambridge Obesity Gene Panel) and in vitro functiona...

Introduction: Graves’ disease (GD), although the most common cause of hyperthyroidism, is relatively uncommon in children, usually manifesting insidiously. Thyroid storm is a well described but rarely seen phenomenon in childhood GD; thyrotoxic crisis is less often discussed and its management can be challenging. We describe a case of GD with thyrotoxic crisis.Case: A 14-year-old female, known to have inadequately c...

Introduction: Joubert Syndrome (JS) is a rare ciliopathy condition, presenting distinctive cerebellar and brain stem malformation called the “molar tooth sign” (MTS) on brain imaging. Patients suffer from neonatal breathing dysregulation, developmental delay, hypotonia, abnormal eye movements. Endocrine disorders are only rarely evaluated, to date only few reports highlight the importance of hormonal evaluation.Material...