Searchable abstracts of presentations at key conferences in endocrinology

ea0005p255 | Thyroid | BES2003

Preliminary evidence for genetic heterogeneity in the autoimmune polyendocrinopathy and enteropathy syndrome (IPEX)

Owen C , Jennings C , Imrie H , Lachaux A , Bridges N , Cheetham T , Pearce S

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

ea0010p81 | Steroids to include Cushing's | SFE2005

Association of an FC receptor-like 3 haplotype with autoimmune Addison’s disease suggests an alternative pathogenic allele at the locus

Owen C , Eden J , Jennings C , Wilson V , Cheetham T , Pearce S

The common autoimmune endocrinopathies are caused by susceptibility alleles at several genetic loci including MHC, CTLA4, PTPN22 and probably several others. Many of these susceptibility alleles are shared between several different autoimmune disorders including type 1 diabetes, autoimmune thyroid diseases and rheumatoid arthritis. In recent months a novel susceptibility locus was identified in the 5’ end of the Fc receptor-like 3 (FCRL3) gene ...

ea0006oc7 | Reproduction | SFE2003


Stubbs S , Zachery-Jennings C , Margara R , Trew G , Lavery S , Franks S , Hardy K

Little is know about the effects of IGFs on the early preantral stages of follicle development. The aim of this study was to investigate the effects of IGF-I on recruitment and survival of human preantral follicles in vitro. Small ovarian cortical biopsies were obtained at laparoscopy, with informed consent and local ethical committee approval, from 27 premenopausal women. The tissue was divided and randomly allocated to 5 conditions. The first piece was fixed immediately as a...

ea0005p204 | Reproduction | BES2003

The effect of insulin-like growth factor-I (IGF-I) on initiation of human follicle growth in vitro

Stubbs S , Zachery-Jennings C , Margara R , Trew G , Franks S , Hardy K

The factors affecting the regulation of early follicular development are not fully understood. Culture of ovarian cortical biopsies provides a means for investigating initiation of follicle growth. IGF-I has been implicated in the early development of follicles in the primate ovary and the aim of this study was to investigate the effects on IGF-I on recruitment, growth and survival of human preantral follicles. Small ovarian cortical biopsies were obtained, with informed conse...

ea0002p48 | Genetics | SFE2001

Association analysis of the Deleted in colorectal carcinoma (DCC) gene in Graves' disease

Jennings C , Imrie H , Vaidya B , Kendall-Taylor P , Pearce S

Graves' disease (GD) is inherited as a complex trait and previous studies have identified linkage and association of both GD and type 1 diabetes to markers on chromosome 18q21. A candidate gene for autoimmunity that is contained within the critical interval on 18q21 is the apoptosis regulator 'Deleted in Colorectal Carcinoma' (DCC).317 Graves' disease probands and 311 controls were genotyped for a single nucleotide polymorphism that encodes a glycine to ...

ea0007p172 | Reproduction | BES2004

The effect of insulin-like growth factor I (IGF-I) on initiation of follicle growth in normal and polycystic ovaries in vitro

Stubbs S , Zachery-Jennings C , Margara R , Trew G , Lavery S , Stark J , Hardy K , Franks S

Early follicular development in polycystic ovaries (PCO) is abnormal; a higher proportion of follicles have entered the growing phase than in normal ovaries [1]. IGF-I stimulates the initiation of preantral follicle growth in a human tissue culture system using a growth factor-reduced extracellular matrix, Matrigel [2]. The aim of this study was to compare the effects of IGF-I on early preantral follicle development in polycystic and normal ovaries. Small ovarian cortical biop...