Endocrine Abstracts

The increased testing for key genes associated with familial paraganglioma syndromes has, in turn, led to a rapid increase in the identification of asymptomatic carriers through cascade screening. Mutations in SDH subunits B and D account for approximately 50% of the ‘gene positive’ index case results, yet there remains significant controversy and variability with respect to the screening strategies for their asymptomatic relatives. For SDHD at risk carriers, surveil...

The increased testing for key genes associated with familial paraganglioma syndromes has, in turn, led to a rapid increase in the identification of asymptomatic carriers through cascade screening. Mutations in SDH subunits B and D account for approximately 50% of the ‘gene positive’ index case results, yet there remains significant controversy and variability with respect to the screening strategies for their asymptomatic relatives. For SDHD at risk carriers, surveil...

The AR pathway accumulates myriad genomic and transcriptomic alterations during progression of prostate cancer to a lethal castration-resistant phenotype. The best characterized alterations are point mutations or amplification of the AR gene. More recently, our group had identified structural rearrangements in the AR gene as a novel class of alterations that occur frequently in castration-resistant prostate cancer (CRPC) tissues. AR gene rearrangements are associated with outl...

Commercialisation and the development of new technologies may be thought of as the natural conclusion of academic research. Typically this has been the preserve of industry, however, more recently translation has become a key aspect of any scientific research programme. The processes involved in the translation of basic and clinical research will be discussed in the context of an in-house drug discovery programme, highlighting the differences between hypothesis and goal-driven...

Life on earth is governed by the continuous 24-hour cycle of light and dark. Organisms have adapted to this environment with clear diurnal rhythms in their physiology and metabolism enabling them to anticipate predictable environmental fluctuations over the day and to optimise the timing of relevant biological processes to this cycle. It is of considerable interest that the normal diurnal variation in these processes is lost in the presence of insulin resistance, obesity and d...

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The androgen receptor (AR) functions as a master transcriptional regulator of prostate tissue homeostasis. This master transcriptional regulator function is maintained in prostate cancer. Therefore, prostate cancer is an androgen-dependent disease and suppression of AR transcriptional activity with androgen deprivation therapy (ADT) is an effective systemic therapy. However, development of therapy resistance and transition to castration resistant prostate cancer (CRPC) represe...

We present a 38-year-old patient who had adrenal insufficiency following laparoscopic removal of 3.2 cm cortisol-secreting right adrenal tumour. His biopsy showed adrenocortical adenoma in keeping with Cushing’s syndrome. He had a history of hypertension with suboptimal control despite being on 3 anti-hypertensives. His early morning cortisol (by GP to investigate secondary causes) were elevated and this prompted Endocrine referral. Clinical history and examination were ...

A fit and well 41-year-old lady who was 10-days post-partum was referred to our Endocrine team for hyponatraemia (serum sodium 117 mmol/l). She had a spontaneous vaginal delivery but had 1.5L blood loss due to difficulty with placenta removal. Her baby is well with no medical issues. During pregnancy, she was started on aspirin due to maternal age and had diet-controlled gestational diabetes. She presented to hospital with extreme lethargy. She also reported lightheadedness a...

We present the case of a girl with rapidly progressing central precocious puberty, CPP. The young girl presented with consonant rapidly progressive puberty and onset of menarche. She had onset of breast budding at 7 years 11months, menarche at 8 years 2 months, with significant growth spurt. Periods continued every 3 weeks. A Brain MRI demonstrated a dysplastic lesion of her tectal plate. She underwent treatment with Gonadotropin releasing hormone analogues to suppress puberty...