Endocrine Abstracts

The SIGN guideline group recently suggested a fracture risk threshold of 10% as an indication for DXA. Patients who do not have a 10 year fracture probability of 10% or more would therefore not meet the criteria for direct access to DXA. In order to assess whether implementing these guidelines would impact overall management, we undertook a prospective audit of our direct access DXA and health promotion service. Charts from 61 consecutive patients were reviewed (54F/7M, Mean a...

A 16-year-old female presented with secondary amenorrhoea. Menarche was age 14 years and periods were less frequent over the preceding 12 months. There was no galactorrhoea, headache or visual field disturbance and no known family history of pituitary disease, tall stature or infertility. There were no clinical signs of Cushing’s disease or acromegaly and visual fields were full to confrontation. Height was 160 cm. Investigations showed a prolactin of 2,452 mIU/l (RR 102-...

Introduction: Radiation-induced hypopituitarism has been well-described in childhood-onset brain tumour survivors, however in adults has received less attention. The aim of this study was to assess the pituitary-related outcomes following cXRT in adults with extra-sellar gliomas.Methods: We retrospectively collected longitudinal data regarding pituitary-related outcomes from medical records of 59 patients, diagnosed with extra-sellar gliomas in adulthood...

Introduction: Radiation-induced hypopituitarism is a well-recognized complication of cranial radiotherapy (cXRT) for childhood brain tumours when the hypothalamo–pituitary axis is within the irradiation field. Few data are available for survivors of adult brain tumours who have received cranial irradiation.Methods: We retrospectively reviewed medical records of patients referred to Endocrinology following cXRT for primary non-pituitary brain tumours...

Background: The cyclic GMP-AMP synthase stimulator of interferon genes (cGAS-STING) signalling pathway is an element of the innate immune response and is activated by the presence of DNA in the cytosol. Triggering of this immune response may occur in the setting of infection or neoplasia. Activation of this pathway results in phosphorylation of interferon regulatory factor 3 and downstream transcription of cytokines such as interferon β and interleukin-6. Polyinosinic:pol...

Introduction: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHOA) is a rare genetic condition characterised by digital clubbing, pachydermia, hyperhidrosis, cutis verticis gyrata and periostosis. The SLCO2A1 transporter and HPGD enzyme genes play an important role in prostaglandin metabolism, hence loss of function mutations in them causes PHOA. To date, according to the VarSome database 101 and 41 variants have been identified in the SLCO...

Pituitary neuroendocrine tumours (PitNETs) are heterogeneous and have limited biomarkers to predict their behaviour, thus making their prognostication difficult. Ki-67 is a protein expressed in active phases of the cell cycle and is one of the biomarkers utilized in routine assessment of PitNET tissue. Current European Society of Endocrinology recommendations advise that histopathological analysis of PitNETs should as a minimum include Ki-67 proliferation index and anterior pi...

In Northern Ireland, the sole tertiary referral centre for pituitary disease which includes neurosurgery and endocrinology for ~1.9 million people, is based in the Royal Victoria Hospital, Belfast. A retrospective study has been commenced to examine clinical, biochemical, histopathological and radiological data for all patients operated on across an approximately 20 year period in Northern Ireland. Ethical approval was obtained from the Northern Ireland Biobank (study num...

Introduction: IGF-1 dependence on sex is a well-known fact; however, whether IGF-1 is also influenced by body weight is still questionable, and the mechanism of a potential relationship between GH, IGF-1 and body weight is not fully explained. The effect of gender (or rather oestrogens) on IGF-1 is visible in acromegaly - women are diagnosed at an older age than men (approximately 4 years) (potentially by suppressive effect on the axis of GH-IGF-1). The aim of the study was to...

Background: Pachydermoperiostosis (primary hypertrophic osteoarthropathy, PHO) is a rare genetic disease characterised by clinical signs and symptoms which may overlap with acromegaly (pachydermia, hyperhidrosis and enlargement of hands and feet). In the majority of cases, the disease is due to biallelic loss-of-function variants in either of two genes, SLCO2A1 and HPGD playing an important role in prostaglandin metabolism. Although PHO patients are often ref...