Publications by authors named "Mirta Beatriz Miras"
Background: Congenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide accumulation in the thyroid gland. ITD is an autosomal recessive disorder caused by loss-of-function variants in the sodium/iodide symporter (NIS)-coding gene.
Objective: We aimed to identify, and if so to functionally characterize, novel ITD-causing gene variants in a cohort of five unrelated pediatric patients diagnosed with dyshormonogenic congenital hypothyroidism with minimal to absent Tc-pertechnetate accumulation in the thyroid gland.
Context: Iodide transport defect (ITD) (Online Mendelian Inheritance in Man No. 274400) is an uncommon cause of dyshormonogenic congenital hypothyroidism due to loss-of-function variants in the SLC5A5 gene, which encodes the sodium/iodide symporter (NIS), causing deficient iodide accumulation in thyroid follicular cells.
Objective: This work aims to determine the molecular basis of a patient's ITD clinical phenotype.
Background: Gonadotropin and steroid concentrations obtained in various laboratories cannot often be compared because of methodological differences.
Aims: to determine reference intervals for FSH, LH, T, E2, F and DHEA-S according to age and sex during the first year of life.
Methods: 1236 healthy infants (1-365 days of age) were recruited at Hospital de Niños in Córdoba, Argentina.
Unlabelled: Determination of 17α-nyaroxyprogesterone (17OHP) is used for the diagnosis and monitoring of Congenital Adrenal Hyperplasia (CAH). Problems associated with the specificity of antibodies used in direct immunoassays can yield high false results.
Objectives: To analyze serum levels of direct 17OHP (17OHPd) and previous extraction (17OHPe) in the neonatal period, in order to establish reference values.