Endocrine Abstracts

Background: Thyroid hormones are essential for normal development and metabolism. Their synthesis requires a normal function of thyroid follicular cells and adequate nutritional intake of iodine. Immortalized thyroid cell lines are widely used to study thyroid physiology and pathology. The best characterized and most widely used ones include the FRTL5 rat thyroid cell line and a derivative thereof, the PCCL3 cell line. A permanent human thyroid cell line is currently lacking. ...

Introduction: Nrf2 (Nfe2l2) is a transcription factor that regulates a series of cytoprotective and antioxidant enzymes. Upon exposure to oxidative or electrophilic stress, Nrf2 enters the nucleus and induces its target genes expression. Follicular thyroid cells have physiologically high levels of reactive oxygen species as oxidation of iodine is essential for iodination of thyroglobulin and thyroid hormones synthesis. We have shown previously that Nrf2 pathway is active in th...

Background: Graves’ disease (GD) typically manifests as an autoimmune hyperfunction of both thyroid lobes. Less than 10 cases of unilateral GD have been described, and the pathophysiology of unilateral GD remains unknown. Co-existence of malignancy has never been reported. We report a case of GD of the left lobe with simultaneous discovery of a papillary carcinoma within the hyperfunctioning lobe.Case description: A 49-year-old patient of Middle-Eas...

Background: KEAP1 gene (Kelch-like ECH-associated protein 1) that encodes the main inhibitor of nuclear factor erythroid 2-related transcription factor 2 (Nrf2), a central mediator of antioxidant responses, has been found to be one of the mutated genes that lead to familial multinodular goiter (MNG). The proposed association of KEAP1 with familial MNG is based on only two loss-of-function mutations in respective Japanese families. To date, there is no experim...

Background: Congenital hypogonadotropic hypogonadism (CHH) is characterized by absent puberty and infertility due to a lack of GnRH secretion/action. In addition, patients exhibit variable non-reproductive phenotypes such as anosmia, cleft palate, synkinesia, and others. As many as 10% of CHH patients harbor mutations in FGFR1; this group is enriched for skeletal anomalies. We report here a novel CHH-associated skeletal phenotype, split hand/foot malformation (SHFM), ...