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8. Altered thyroid function in small for gestational age newborns: study based on screening test for congenital hypothyroidism

Author

MUSARÃ&#039, BAGNOLI, Franco, FARMESCHI, Laura, PERUZZI, Luana, PAFFETTI, Patrizia, BADII, Silvia, CASUCCI, Martina, PASQUI, Letizia, and LACOPONI, Francesca

Subjects
endocrine system, endocrine system diseases, SGA, Thyroid hormones, female genital diseases and pregnancy complications, reproductive and urinary physiology
Abstract

Background and Aims: Unequivocal data is not yet available on alterations in plasma concentrations of thyroid hormones that may characterize small-for-gestational-age (SGA) newborns. We used data from screening for congenital hypothyroidism in a large population to evaluate the relationship between growth restriction and thyroid function in the first week of life. Materials and Methods: Subjects: 14,092 newborns (13,333 appropriate-for-gestational-age (AGA) and 759 SGA) screened for congenital hypothyroidism on the third day of life. The screening test measured plasma concentrations of TSH and T4 by fluoroimmunoenzyme assay.Results: Comparison of SGA and AGA newborns revealed lower serum concentrations of T4 in preterm and term SGA infants (p=0.0001), whereas concentrations of TSH were significantly higher only in term SGA infants (p=0.0001). T4 concentrations were positively correlated with gestational age in SGA and AGA groups, whereas TSH concentrations were only correlated with gestational age in the AGA group. 1.84% of SGA babies were recalled for TSH and T4 anomalies against only 0.93% of AGA newborns (p=0.01).Conclusion: SGA babies had a higher incidence of transient hypothyroidism and required accurate follow-up and close monitoring of thyroid function.

Published
2010

9. SCREENING TEST FOR CONGENITAL HYPOTHYROIDISM: THYROID STIMULATING HORMONE (TSH) AND THYROXINE (T4) IN THE ADAPTED FOR GESTATIONAL AGE NEWBORN (AGA) AND IN THE SMALL FOR GESTATIONAL AGE NEWBORN (SGA) AT TERM AND PRETERM

Author

Bagnoli, Franco, primary, Montecchiani, Giada, additional, Farmeschi, Laura, additional, Nappini, Sara, additional, Badii, Silvia, additional, Cecchi, Sara, additional, Mori, Annalisa, additional, Peruzzi, Luana, additional, and Tomasini, Barbara, additional

Published
2013
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11. Cytosolic 5′nucleotidase hyperactivity in erythrocytes of Lesch–Nyhan syndrome patients

Author

Pesi, Rossana, Micheli, Vanna, Jacomelli, Gabriella, Peruzzi, Luana, Camici, Marcella, Garcia-Gil, Mercedes, Allegrini, Simone, and Tozzi, Maria Grazia

Abstract

Lesch–Nyhan syndrome is a metabolic–neurological syndrome caused by the X-linked deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Metabolic consequences of HGPRT deficiency have been clarified, but the connection with the neurological manifestations is still unknown. Much effort has been directed to finding other alterations in purine nucleotides in different cells of Lesch–Nyhan patients. A peculiar finding was the measure of appreciable amount of Z-nucleotides in red cells. We found significantly higher IMP-GMP-specific 5′-nucleotidase activity in the erythrocytes of seven patients with Lesch–Nyhan syndrome than in healthy controls. The same alteration was found in one individual with partial HGPRT deficiency displaying a severe neurological syndrome, and in two slightly hyperuricemic patients with a psychomotor delay. Since ZMP was a good substrate of 5′-nucleotidase producing Z-riboside, we incubated murine and human cultured neuronal cells with this nucleoside and found that it is toxic for our models, promoting apoptosis. This finding suggests an involvement of the toxicity of the Z-riboside in the pathogenesis of neurological disorders in Lesch–Nyhan syndrome and possibly in other pediatric neurological syndromes of uncertain origin.

Published
2000

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