Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.

DEHAL1 (also named IYD) is the thyroidal enzyme that deiodinates mono- and diiodotyrosines (MIT, DIT) and recycles iodine, a scarce element in the environment, for the efficient synthesis of thyroid hormone. Failure of this enzyme leads to the iodotyrosine deiodinase deficiency (ITDD), characterized by hypothyroidism, compressive goiter and variable mental retardation, whose diagnostic hallmark is the elevation of iodotyrosines in serum and urine. However, the specific diagnosis of this type of hypothyroidism is not routinely performed, due to technical and practical difficulties in iodotyrosine determinations. A handful of mutations in the DEHAL1 gene have been identified as the molecular basis for the ITDD. Patients harboring DEHAL1 defects so far described all belong to consanguineous families, and psychomotor deficits were present in some affected individuals. This is probably due to the lack of biochemical expression of the disease at the beginning of life, which causes ITDD being undetected in screening programs for congenital hypothyroidism, as currently performed. This worrying feature calls for efforts to improve pre-clinical detection of iodotyrosine deiodinase deficiency during the neonatal time. Such a challenge poses questions of patho-physiological (natural history of the disease, environmental factors influencing its expression) epidemiological (prevalence of ITDD) and technical nature (development of optimal methodology for safe detection of pre-clinical ITDD), which will be addressed in this review.

Selenium content and distribution in cow's milk supplemented with two dietary selenium sources.

The effect of two sources of Se, selenized yeast (Se-Y) and sodium selenite, added to total mixed rations (TMR) fed to cows on Se milk content and distribution in milk components was studied on three farms for 6 weeks. The maximal increase in milk Se was attained with Se-Y supplemented at 0.3 microg g(-1). The effect was immediate, with an increase of 9 microg L(-1) being observed after only 5 days, and remained steady until the last sample at day 40 of Se supplementation. Se distribution in milk components was constant, 53.6, 42.6, and 9.3% in whey, casein, and fat, respectively, and was unaffected by the form of supplementation. The effect of the level of Se-Y supplementation on milk Se was studied on two farms. Increasing dietary Se-Y from 0 to 0.5 microg g(-1) elevated milk Se content from 20 to 39 microg L(-1). Se-enriched cow's milk at different levels can be produced by varying dietary Se supplementation in the form of selenized yeast.