Endocrine Abstracts

Introduction: A new Regional Paediatric Endocrine Service was established in 1993 which implemented a protocol for Congenital Hypothyroidism (CH) management. Its aim is to confirm the diagnosis, establish aetiology and start treatment within 48 hours after the result of the screening test.Objective: To audit the results of this protocol.Methods: Case note and laboratory data review for all Neonates referred since 1993 after a posit...

The stromal compartment changes with cancer, with an emergence in activated fibroblasts. These stromal changes, which occur with cancer initiation and throughout progression, are known to influence the hallmarks of cancer and are becoming increasingly studied for prognostic and therapeutic purposes. Androgen receptor (AR) signalling in stromal cells is important in prostate cancer and these cancer stromal communications, yet the mechanisms underpinning stromal AR contribution ...

Studies into estrogen receptor alpha (ERα), progesterone receptor (PGR) and the androgen receptor (AR) involvement in breast, uterine and prostate cancers has provided considerable insight into the molecular actions these receptors, but have thus far focused on each receptor individually and alone in different cell types. Here, whole genome expression microarray analysis and ChIP-sequencing in ZR-75-1 breast cancer cells, in response to combinations of 17β-estradiol ...

Introduction: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have a higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care. However differences in HbA1C in ethnic minorities could also relate to biological factors so we looked at mean levels of glycaemia. The aim of our study was to observe if there is a similar correlation between ...

Introduction: Cranial Diabetes Insipidus (DI) presenting in children beyond infancy is most commonly associated with sellar/suprasellar tumours and severe traumatic brain injury or haemorrhage. Less frequent causes may be genetic or idiopathic. Exceptional cases may be associated with minor head injury. We present a case of post-concussive head injury with DI, and anterior pituitary hormone deficits.Case: 15 year old malesustained a concussive head injur...

Background: Cystic fibrosis related diabetes (CFRD), a common complication of CF, contributes to increased morbidity and mortality and is a poor prognostic indicator. Whilst liver transplant is a well-established treatment for end stage liver disease (ESLD) in CF, there are few reports of simultaneous pancreatic transplant in the paediatric population. We report the nutritional and endocrine outcomes of two adolescent CF patients who underwent combined liver and pancreas trans...

One in 11 women develop breast cancer before the age of 75, and mortality is significant. Estrogens and progesterone (PROG) are mediators of breast cancer aetiology and progression, and are targets for both diagnostics and therapy. The actions of estrogens via estrogen receptor alpha (ERα) have been extensively studied, but the genomic actions of PROG via the progesterone receptor (PGR) are still not fully understood. This study investigates the genomic actions of PGR in ...

Background: SOX2 is a member of the SOX (SRY-related HMG box) family of transcription factors, and shares homology with SOX1 and SOX3 which are members of the SOXB1 subfamily. Heterozygous, de novo, loss-of-function mutations in SOX2 were initially reported in patients with bilateral anophthalmia/microphthalmia, developmental delay and male genital tract abnormalities, with variable manifestations including defects of the corpus callosum, oes...

Thyroid dysfunction is not uncommon in pregnancy and is associated with various maternal, foetal and neonatal complications. We report the occurrence of neonatal hyperthyroidism in two successive pregnancies in a post radio-ablation mother with Graves’ disease who is on thyroxine replacement.Mother: A 30-year-old lady, treated for Graves’ thyrotoxicosis with radioiodine 10 years ago, was on thyroxine 100 mcg replacement for hypothyroidism. She ...

Connective tissue growth factor (CTGF aka CCN2), is known to be up-regulated by transforming growth factor beta (TGF beta) and plays important roles in cell cycle control, growth, differentiation, cell adhesion, migration, angiogenesis and ECM production. CTGF is overexpressed in fibrotic disease e.g in kidney, lung, heart as well as in tumours. We have examined expression of CTGF in thyroid tissue because TGF beta is known be an autocrine factor, regulated by iodide. Immunohi...