Endocrine Abstracts

The sonic hedgehog (shh) pathway is known to be essential for pituitary development but little is known of its role in adult pituitary. Patched1, encoded by the Patched1 (Ptch1) gene, is a receptor for shh expressed in all cell types of the anterior pituitary. Adult onset hypogonadotropic hypogonadism has been reported in a genetically engineered mouse line with deletion of Ptch1 using S100a4 promoter driven CRE recombinase expression which is restri...

Objective: To study the relationship between regional body fat distribution and homocysteine levels (Hcy) in type 2 diabetes (T2DM) with coronary atherosclerotic lesions and homocysteine (Hcy).Methods: 115 patients in department of endocrinology and cardiology of Shanxi Province People’s Hospital from October, 2010 to May, 2011 was divided into T2DM with coronary atherosclerosis group 53 patients, T2DM with non-coronary atherosclerosis group 62 pati...

BackgroundAcute intermittent porphyria (AIP), a rare autosomal-dominant inherited disorder, caused by pathogenic mutations in the gene encoding porphobilinogen deaminase (PBGD). To explore its clinical characteristics, we investigated three patients with AIP admitted to our hospital.MethodsIn this study, patients successfully diagnosed with AIP and treated at the First Hospital of Shanxi Medical University si...

BackgroundThe reported HMBS mutations of acute intermittent porphyria(AIP) have been increasing gradually in China. We aim to explore its mutation characteristic in China and improve the understanding of its molecular heterogeneity.Material/methodsWe searched the literature about Chinese AIP patients with HMBS mutation in the PubMed, CNKI, Wanfang and CQVIP database, and 3 AIP patients with HMBS mutation in o...

Background and aims: The global epidemic of obesity represents a severe threat to public health and quality of life. Fat mass and obesity-associated (FTO) gene was the first locus unequivocally associated with adiposity. The polymorphisms of FTO gene association with obesity and T2DM have been identified in large multiple populations, however, the correlation between FTO level and clinical parameters in is not completely understood. Here we analyze the relations of serum FTO t...

Estrogen plays an important role on bone metabolism. However, the lacking of estrogen is proven a high risk to induce OP in post menopause women associated with bone metabolism problems. Furthermore, bone metabolism is strongly correlated with mechanical forces. It is proposed that mechanical forces, such as fluid shear stress and stretch, can modulate the function of bone cells. The OP patients’ bone seems lose this major function about functional adaptation and bone str...

Background: Germline mutations in the Phosphatase and Tensin Homolog Hamartoma tumour (PTEN) gene are associated with a number of conditions, collectively known as PTEN hamartoma tumour syndromes (PHTS). Individuals with PHTS are at increased risk of a number of cancers primarily in adulthood including differentiated thyroid carcinoma (DTC) with an estimated lifetime risk of DTC of up to 38%. International guidance recommends screening commencing from 17 years while the 2017-U...

Introduction: Expression of murine CSP-1/Dcpp secretory proteins was first identified in sublingual salivary glands and subsequently in secretory epithelia of several other tissues, including the mouse female reproductive tract where expression is regulated by oestrogen. Preliminary studies indicated that HRPE773, the human CSP-1/Dcpp orthologue, displayed a similar pattern of expression to its murine counterparts. We therefore hypothesized that HRPE773 might be expressed in h...

Ovarian cancer is the most fatal of all gynaecological malignancies. EOC accounts for >90% of malignant ovarian tumours and is thought to originate mostly from OSE cells. Epidemiological data suggest EOC is oestrogen responsive and we previously showed active oestrogen could be produced locally by EOC cells, but not by normal OSE cells, through the combined activities of steroid sulfatase (STS) and 17βhydroxysteroid dehydrogenase. We now investigate if EST, which conv...

At least 90% of human ovarian cancers may originate in the OSE. Most studies indicate that EOC is oestrogen responsive. Paradoxically, ovarian cancer generally occurs after the menopause, so the question arises if oestrogen is involved, where does it come from? We hypothesise that the high circulating concentrations of conjugated (inactive) oestrogens in post-menopausal women are substrates for formation of active oestrogen in the OSE through the hydrolytic enzyme activity of ...