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ea0029p1755 | Thyroid cancer | ICEECE2012

The TRHR gene is associated to hypothalamo-pituitary sensitivity to levothyroxine in thyroidectomized patients

Brigante G , Spaggiari G , Cioni K , Gnarini V , Pignatti E , Casarini L , Marino M , Tuttelmann F , Carani C , Simoni M

Background: Patients thyroidectomized for thyroid cancer need variable doses of levothyroxine (LT4) to obtain TSH suppression. A predetermined thyroid function set-point for each individual has been hypothesized, suggesting a genetic influence in the regulation of pituitary-thyroid axis. We hypothesized of the TRHR gene could be associated with a different hypothalamo-pituitary sensitivity to the negative feedback of the thyroid hormones.<p class=...

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ea0029p1297 | Paediatric endocrinology | ICEECE2012

Two novel IGF1R gene heterozygous mutations in two unrelated children with pre and postnatal growth retardation, and microcephaly

Guercio G. , Warman D. , Aziz M. , Riu C. , Aguiar M. , Juanes M. , Marino R. , Ciaccio M. , Berensztein E. , Chaler E. , Rivarola M. , Belgorosky A.

Several IGF1R gene mutations have been described as a cause of growth retardation due to IGF1 insensitivity. The IGF1R gene was analyzed in two children suspected to have IGF1 insensitivity. Both were born small for gestational age (SGA) and showed no postnatal catch-up growth. Both patients presented microcephaly and developmental delay. A boy (P1) was born at 37 weeks, birth weight was 1900 g (−2.98 SDS) and body length 42 cm (−4.7 SDS). At 18 months chronologica...

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Endocrine Abstracts

Role of the complex Megalin-RAP in thyroglobulin trafficking

The TRHR gene is associated to hypothalamo-pituitary sensitivity to levothyroxine in thyroidectomized patients

Two novel IGF1R gene heterozygous mutations in two unrelated children with pre and postnatal growth retardation, and microcephaly

BiosciAbstracts