Endocrine Abstracts

FGFs and T3 are required for skeletal development. Activating mutations of FGF receptor-1 (FGFR-1) and FGFR-2 cause craniosynostosis, whilst FGFR-3 is a negative regulator of chondrocyte proliferation and activating mutations cause achondroplasia. Childhood hypothyroidism causes delayed ossification and growth retardation, whereas thyrotoxicosis accelerates bone development, induces premature growth plate and skull suture closure and causes short stature and craniosynostosis. ...

Neonates harbouring germline gain-of-function TSHR mutations (M453T, L629F) have been reported with transient proptosis. This resolves once euthyroidism is achieved. In contrast children expressing TSHR mutations (V597L, I486T) fail to thrive, with weight gain and height between the 0.4th and 2nd centiles. We have previously demonstrated TSHR expression in preadipocytes undergoing adipogenesis. We now investigate the consequences of constitutively active TSHR mutation expressi...

We have previously shown Pituitary Tumor Transforming Gene (PTTG) and basic Fibroblast Growth Factor (FGF-2) to be upregulated in thyroid cancer. PTTG requires interaction with the protein PBF (PTTG Binding Factor) to stimulate FGF-2 secretion, and hence promote tumour angiogenesis and growth. We now report that PBF is also upregulated in hyperplastic and neoplastic thyroid tissues compared with normal thyroid (N=11) (2.6-fold in multinodular goitre (N=25, P=0.002), and 3.3-fo...

Glucocorticoids may regulate the autoimmune response by influencing the shift in balance between type-1 and type-2 cytokine responses. To investigate the effect of steroids on peripheral cytokine expression in autoimmune thyroiditis we measured dexamethasone (Dex) and progesterone (Prg) inhibition of peripheral CD4+ T lymphocyte expressions of Interferon-gamma (IFN-g) (type-1 response) and Interleukin-4 (IL-4) (type 2 response) in both patients and healthy subjects.<p clas...

1500 euthyroid patients (1302 females and 198 males, mean age 47.8) presenting with thyroid enlargement were evaluated by fine needle aspiration (FNAC) of the thyroid as the first line investigation. The final cytological or histological diagnosis was determined after surgery (n=556) or clinical follow-up for a minimum period of 2 years (mean 9.5 yrs, range 2-19 years). Goitre type was assessed clinically and classified as diffuse in 184, multinodular in 457 or solitary nodule...

The HLA and CTLA-4 gene regions, on chromosomes 6p21 and 2q33 respectively, have been consistently associated with Graves' disease (GD). Recent data indicate that both DRB1 (in the HLA class II region) and the 3' untranslated region of the CTLA-4 gene are the most likely regions harbouring the aetiological variants for susceptibility to GD. It is not known, however, whether these variants lead to expression of specific sub-phenotypes in subjects with GD, or contribute to disea...