Endocrine Abstracts

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...

Polycystic ovary syndrome (PCOS) is the most common cause of anovulatory infertility. Although the cause of the anovulation is unknown there are a number of endocrine candidates; hyperinsulinaemia, raised steroid production and increased levels of the sexual differentiative factor anti-Müllerian hormone (AMH). The latter is increasingly thought to be an inhibitor of folliculogenesis. Hyperinsulinaemia in PCOS is now widely treated with metformin and we have shown that thi...

AMH causes regression of Müllerian ducts during male fetal development. Recently, AMH was detected in the adult ovary, principally in granulosa cells (GCs). Studies have demonstrated a 1.5–5 fold increase in serum AMH in women with PCOS compared to normal ovulatory women. The AMH rise was assumed to be secondary to increased numbers of follicles. Interestingly, the insulin sensitiser metformin, which is in widespread use in PCOS, caused a significant reduction in ser...

Thyroid Associated Ophthalmopathy (TAO) is an autoimmune inflammatory condition that usually occurs in patients with Graves' disease. Current treatment for TAO is inadequate and anti-cytokine agents may represent a potential new therapeutic strategy. Orbital fibroblasts are central to the disease mechanism, and have been shown by immunohistochemisty to up-regulate adhesion molecule ICAM1 expression in response to certain cytokines including TNFalpha.In t...

3beta-hydroxysteroid dehydrogenase (3beta-HSD) expression is essential for the synthesis of all classes of steroid hormones, converting delta5-3beta-hydroxysteroids into hormonally active delta4-3-ketosteroids in NAD+-dependent reactions. A variety of 3beta-HSD isoforms have been described in primate, rodent and other mammals, often exhibiting distinct kinetic properties, preferential subcellular localization, as well as alternative substrate s...

There is evidence from animal studies that 1,25-dihyroxyvitamin D3 (1,25(OH)2D3) is essential for normal reproductive function. Vitamin deficient rats have reduced fertility and VDR null mutant mice demonstrate impaired folliculogenesis. One small uncontrolled study in humans has demonstrated that vitamin D replacement improves menstrual frequency and acne in women with polycystic ovary syndrome (PCOS). We have previously demonstrated that 1,25(OH)2D3 inh...

Towards the end of pregnancy, when maternal steroidogenesis is stimulated, the fetal adrenal gland undergoes significant developmental changes. To test responsiveness to external stimuli at this stage, we fed pregnant rats with diets containing 0.03% (low), 0.3% (normal) or 3% (high) sodium to manipulate aldosterone synthesis. Dietary sodium variations had no deleterious effects on numbers or weights of foetuses at embryo day 20. Maternal adrenal weights were unaffected by die...

Background: Hypertension is common in adults with Turner Syndrome (TS) but less is known about hypertension in children with TS.Aim: To determine the frequency of hypertension in a contemporary paediatric TS cohort and to assess its association with clinical characteristics.Patients and methods: Preliminary analysis of 22 girls with TS attending a designated TS clinic at RHC, Glasgow, with at least 2 blood pressure measurements in ...

Background: Transition is an important stage in the care of a young person with a long term endocrine condition.Objective: To explore current services for young people (YP) with endocrine conditions from the perspective of paediatric and adult endocrinologists, and YP and their parents using their services.Methods: There were two components: i) service questionnaire for completion by paediatric and adult endocrinologists. ii) &#145...

Introduction: With improvements in assays and the increasing need for non-invasive, out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (UG) for assessing pubertal progress. This study aims to establish the correlation between serum and urinary LH and FSH in patients undergoing investigation or management of pubertal disorders.Methods/design: Retrospective evaluation of eight patients undergoing investigatio...