Naslov
THREE YEARS FOLLOW UP OF CHILD WITH A RARE MUTATIOM OF THRYOID HORMONE RECEPTOR

Autori
Lozić, Bernarda ; Unić Šabašov, Ivana ; Škrabić, Veselin ; Šimunović, Marko ; Krželj, Vjekoslav Refetoff S.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
VI. Hrvatski kongres humane genetike s međunarodnim sudjelovanjem / - Split : Hrvatsko društvo za humanu genetiku, 2015, 71-71

Skup
VI. Hrvatski kongres humane genetike s međunarodnim sudjelovanjem

Mjesto i datum
Split, Hrvatska, 05.11.2015. - 07.11.2015

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Domaća recenzija

Ključne riječi
thyroid hormone receptor, mutation, resistance

Sažetak
Thyroid hormone. It is usually caused by the mutations in the thyroid hormone receptor (TRβ) transmitted autosomal dominantly. Clinical presentation is variable. The cardinal features include: high serum concentration of free T4, T3, non suppressed (normal or high) serum TSH, absence of the usual symptoms and signs of thyreotoxicosis, and goiter. Case report: We describe the variety of clinical symptoms of female child which we were follow up from infancy to the age of three. Biochemical thyroid function tests showed persistent elevated serum T4, free T4, T3, free T3 and slighted elevated TSH. We confirmed our clinical diagnosis of genetic sequencing TRβ and found de novo mutation in one allele of the gene TRβ. This mutation involves a single nucleotide substitution (ad adenine for the normal guanine) at codon 322, which results in a replacement of the normal glycine with glutamic acid (G332E).This amino acid substitutions located in the hormone-binding domain resulting in the reduction of its affinity to the T3-ligand to only 2% of the normal receptor. Conclusion: Until now this rare mutation has been found in only two other families, but without evidence of clinical presentation. Here, we describe clinical feature of female child through three years which was depended of age.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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