Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc48 | Endocrine genetics | ECE2006

Progressive osseous heteroplasia: a phenotype associated with mutations of the GNAS1 gene

Richard N , Abeguile G , Kottler ML

Progressive osseous heteroplasia (POH, MIM 166350) is a rare autosomal dominant disorder characterised by extensive dermal ossification during childhood, followed by widespread heterotopic ossification of skeletal muscle and deep connective tissue. Recently, genetic basis was found to be common with Albright’s hereditary osteodystrophy (AHO) (Shore et al., 2002): paternally inherited inactivating mutations of the GNAS1 gene were found. GNAS1 is the ge...

ea0011p686 | Reproduction | ECE2006

Expressions of KISS1 and GPR54 are differentially regulated by estradiol and GnRH in adult female rat pituitary

Richard N , Galmiche G , Corvaisier S , Kottler ML

Expressions of KISS-1 and GPR54 have been demonstrated in a variety of tissues, including pituitary. Given their role in reproduction and in gonadotrophin secretion, we examined the regulation of their expression by steroids and GnRH in the rat pituitary using real-time PCR procedure.After ovariectomy (OVX), pituitary KISS-1 mRNA levels dramatically decrease whereas GPR54 transcripts slightly increase compared with intact cycl...

ea0015p258 | Pituitary | SFEBES2008

Monitoring acromegaly disease activity with growth hormone and insulin like growth factor-I in 501 patients

Sherlock Mark , Alonso Aurora Aragon , Ayuk John , Clayton Richard N , Sheppard Michael C , Bates Andy , Stewart Paul

The aim of treatment in patients with acromegaly is to achieve serum GH/ IGF-I concentrations associated with cure or normalisation of mortality. Using the West Midlands acromegaly database (n=501) we assessed a number of parameters in the follow up of patients with acromegaly including the reliability of basal fasting GH in predicting nadir or mean GH during oral glucose tolerance test (OGTT) or growth hormone day curve (GHDC) respectively, the degree of discordance be...

ea0016p468 | Neuroendocrinology | ECE2008

Factors associated with response to medical therapy in patients with Acromegaly

Fernandez-Rodriguez Eva , Sherlock Mark , Aragon Alonso Aurora , Ayuk John , Clayton Richard N , Sheppard Michael C , Bates Andy , Stewart Paul M

Acromegaly is associated with increased morbidity and mortality. Surgery, radiotherapy (RT) and medical therapy are the treatment options to decrease GH and IGF-I concentrations to levels associated with cure or normalisation of mortality. We examined the response to dopamine agonists (DA) and somatostatin analogues (SSA) in 276 patients with acromegaly who received medical therapy during follow up (198 DA, 143 SSA). One hundred and seventy two had surgery and 73 RT prior to m...

ea0015p260 | Pituitary | SFEBES2008

Predictors of response to medical therapy in patients with acromegaly

Sherlock Mark , Fernandez-Rodriguez Eva , Alonso Aurora Aragon , Ayuk John , Clayton Richard N , Sheppard Michael C , Bates Andy , Stewart Paul M

Acromegaly is associated with increased morbidity and mortality. There are several treatment options for acromegaly including surgery, radiotherapy and medical therapy. The aims of treatment in patients with acromegaly is to achieve GH and IGF-I concentrations associated with cure or normalisation of mortality.We examined predictive factors of response to treatment with dopamine agonists (DA) and somatostatin analogues (SSA) in a cohort of 501 patients w...

ea0015p261 | Pituitary | SFEBES2008

Effect of radiotherapy and pituitary dysfunction on mortality in patients with acromegaly

Sherlock Mark , Alonso Aurora Aragon , Reulen Raoul C , Ayuk John , Clayton Richard N , Sheppard Michael C , Hawkins Mike , Bates Andy , Stewart Paul M

Acromegaly is associated with increased morbidity and premature mortality which has been demonstrated in a number of retrospective studies reporting a standardised mortality ratio (SMR) between 1.3 and 3. Many patients with acromegaly develop hypopituitarism as a result of the pituitary adenoma itself or surgery and/or radiotherapy. Hypopituitarism is also associated with an increased SMR (1.2–2.17).Using the West Midlands Acromegaly database (n<...