Genetics of congenital hypothyroidism

Primary congenital hypothyroidism (CH) is the most frequent endocrine metabolic disease in the infancy, with an incidence of about 1/3000 live births. With the exception of the rare cases of central hypothyroidism, CH is characterized by the presence of elevated TSH levels in response to reduced thyroid hormone production.In 15% of cases, the disease is caused by inborn errors in the mechanisms required for thyroid hormone synthesis and are indicated with the term of dyshormonogenesis. In the remaining 85%, CH is due to alterations occurring during the gland's organogenesis, which result in a thyroid gland that is absent (thyroid agenesis or athyreosis), severely reduced in size (thyroid hypoplasia) or located in an unusual position (thyroid ectopy). All these entities are grouped under the term “thyroid dysgenesis” (TD).Thyroid dyshormonogenesis shows classical Mendelian recessive inheritance and very frequently leads to enlargement of the gland (goiter), presumably as a consequence of the elevated TSH levels. Among the genes causing dyshormonogenesis, initially it was described a role of the thyroid peroxidase and thyroglobulin genes. More recently, also other genes have beed demonstrated to be involved, including Pendrin (PDS, in Pendred syndrome), the sodium iodide symporter (NIS), and THOX2 (thyroid oxidase 2) gene.TD occurs mostly as a sporadic disease. However a genetic cause of the disease it has been demonstrated in about 5% of the studied cases. Genes associated with TD includes several thyroid transcription factors expressed in the early phases of thyroid organogenesis (NKX2.1/TITF1, FOXE1/TITF2, PAX8, NKX2.5) as well as genes, like the thyrotropin receptor gene (TSHR) expressed in the late phases of the gland morphogenesis. The more recent aspects of the genetics of congenital hypothyroidism will be reviewed, providing inputs for the discussion

Selenium in the thyroid: physiology and pathology

Selenium (Se) is a trace element that plays a critical role in several processes for human health. The thyroid is the organ with the highest Se content per gram of tissue; in thyroid follicular cells, Se acts as antioxidant by contrasting the production of the reactive oxygen species that are generated during thyroid hormones biosynthesis. In addition, Se is part of the active site of the deoidinases, the enzymes responsible for thyroid hormones activation and inactivation. Herein, the effects of Se supplementation in patients with thyroid related disorders have been reviewed on the basis of the studies published on this issue

L'arte di guarire:storia dei rimedi farmacologici a Pisa

E’ un excursus tra la bibliografia che indica gli antichi rimedi per le malattie attribuibili al mondo vegetale attraverso anche la stregoneria e la magia. Vengono riportate le antiche ricette dei testi storici come il “Ricettario fiorentino” e altre antiche ricette con documentazioni storiche.Si riportano e si sottolinea l’importanza degli studi pisani sulle piante medicinali

High-dose intravenous corticosteroid therapy for Graves' ophthalmopathy

In order to compare oral and high-dose iv corticosteroid therapy for Graves' disease, 25 patients with Graves' ophthalmopathy were treated with two weekly iv injections of 1 g of methylprednisolone diluted in 250-500 ml of physiological solution for 6 weeks, and were compared to a group of 26 patients treated with oral prednisone at a dose of 60-80 mg/day progressively reduced every 2 weeks for a total duration of 4-6 months. The efficacy of treatment was evaluated using the ophthalmopathy index score. Patients were followed at 3, 6, 12 months, and afterwards yearly. All patients showed a significant improvement in signs and symptoms of orbital inflammation and a slight improvement in proptosis and diplopia. Relevant side-effects were reported from patients receiving oral therapy, but no significant side-effects were observed in patients treated with high iv doses; a few cases presented with gastric pain (highly sensitive to aluminium oxide or ranitidine), while most of the patients referred to cutaneous rashes and a metal taste that disappeared some hours after the infusion. Improvements observed after treatment have been stable in both groups. In conclusion, in addition to a lower incidence of side-effects compared to the classic oral therapy, the high-dose iv steroid therapy provides efficient and stable improvement in Graves' ophthalmopathy