Endocrine Abstracts

Oestrogen receptor (ER) activity has a wide spectrum of functions in the human body, including the development, growth and maintenance of the reproductive system. There are two ER subtypes, ERα and ERβ. The latter exists as multiple splice variants (ERβ1, ERβ2 and ERβ5) some of which lack a steroid ligand-binding domain. ERs act as steroid-ligand activated transcription factors. Epidermal growth factor (EGF) acting via the MAP kinase pathway has been s...

Somatostatin is an inhibitory regulator with important cellular effects whose actions are mediated through the G protein-coupled somatostatin receptors 1-5 (sst1-5). We have previously described the existence of sst2 in human endometrium, but the expression for other isoforms was unknown. The precise control of cellular proliferation and angiogenesis in the endometrium is not yet fully understood, and we hypothesise that somatostatin may have a role.<...

Isolated hypogonadotrophic hypogonadism (IHH) is defective secretion of luteinizing hormone (LH) and follicular stimulating hormone (FSH) resulting in incomplete or absent pubertal development and infertility. Several genetic defects underlying IHH have been identified, including in the gonadotrophin releasing hormone receptor (GnRH-R) gene. Here we report a case of two sisters, with clinical phenotypes of IHH, presenting with poor breast development, primary amenorrhoea and a...

Kallmann’s syndrome (KS) is proposed to result from disrupted migration of both olfactory sensory axons and hypothalamic gonadotrophin-releasing hormone (GnRH1) neurons during embryogenesis. KAL1 (encoding anosmin-1) and KAL2 (encoding the fibroblast growth factor receptor 1, FGFR1) are responsible for approximately 20% of KS cases, and in an ex vivo system it has been reported that anosmin-1 enhances FGFR1 signalling in a ligand (FGF)- and heparan su...

The intraperitoneal environment of the ovarian surface epithelium (OSE) has an oxygen (O2) tension of 5–12%. This could impact cellular events leading to ovulation. Furthermore, ovarian cancers arising from the OSE (∼80–90% of ovarian malignancies) are likely to experience increased hypoxia due to the relatively poor vascularisation of solid tumours.Using 1%, 5% or 20% O2, we measured the expression of HSD11B1, COX-2...

Pregnancy complications such as pre-eclampsia and intrauterine growth restriction are associated with abnormal placental cell (cytotrophoblast; CT) proliferation and apoptosis. The mechanisms regulating these events are unclear however altered levels of IGFs have also been reported in these conditions. Using an explant model of human first trimester placenta we have shown that both IGF-I and –II act through IGF1R mediated signalling pathways to enhance CT proliferation, d...

Vitamin D deficiency is a particular concern in pregnancy as it can affect both mother and infant, with problems lasting into childhood. A high prevalence of deficiency during pregnancy has been reported among known risk groups. Current guidelines on supplementing pregnant women are conflicting, with universal replacement recommended by the Department of Health but not supported by NICE guidelines. We aimed to determine the prevalence of vitamin D deficiency in a West London p...

Polycystic ovary syndrome (PCOS) affects 5–10% of the female population. It is characterised by androgen excess and anovulatory infertility; several studies have reported an increased incidence of the metabolic syndrome and enhanced 5α-reductase activity in PCOS. However, the contribution of obesity to these findings has yet to be clarified. Here we have analysed metabolic status and urinary steroid metabolite excretion in 114 patients with PCOS (median age 30 (range...