Endocrine Abstracts

Inappropriately high secretion of aldosterone can lead to hypertension and its various cardiovascular consequences. We previously showed that microRNA (miRNA) plays a significant role in the regulation of aldosterone biosynthesis. In this study we measured miRNA levels in H295R cells, the most commonly-used human adrenocortical cell line, and investigated how these change in response to the stimulation of aldosterone biosynthesis.H295R cells (n=...

Introduction: It is postulated that uptake rates for gestational diabetes mellitus (GDM) screening would be improved if offered in a setting more accessible to the patient. However, this has not been previously investigated, nor has the feasibility or the acceptability of such an alternative. The aim of this study is to evaluate the rate of uptake of GDM screening in the primary vs secondary care setting, and to qualitatively explore the providers’ experience of primary c...

Introduction: Anaplastic thyroid cancer is a devastating disease with median survival between 1.2 and 10 months. The disease accounts for as little as 0.9–1.6% of total thyroid cancer cases, but may account for up to half of all thyroid cancer mortality. The aim of our study is to evaluate the prognostic factors and outcomes of patients diagnosed with anaplastic thyroid cancer in Ireland and review emerging treatments for this disease.Methods and de...

Introduction: Medullary thyroid cancer arises from the calcitonin-secreting parafollicular C cells and consists of a spectrum of disease that ranges from extremely indolent tumours, where patients may survive for many years with a large tumor burden, to aggressive types associated with a high mortality rate. The objective of our study is to evaluate the prognostic factors and outcomes of patients diagnosed with medullary thyroid cancer in a homogenous population, and to examin...

Introduction: The increased incidence of thyroid cancer is driven mainly by a large increase in papillary thyroid cancer (PTC). The number of patients that succumb to the disease has remained stable. The aim of our study is to analyze the incidence and mortality of thyroid cancer in Ireland.Methods and design: A retrospective analysis of the National Cancer Registry was undertaken, between 1st of January 1998 and the 31st December 2007. The Kaplan–M...

Background: Pubertal induction with incremental doses of oestrogen replacement is an important component of care offered to hypogonadal patients with Turner Syndrome (TS). Low dose oral ethinylestradiol (EE) has been extensively used in the UK but natural 17-β oestradiol (more physiological, cheaper and easily monitored in blood) is becoming increasingly popular. We undertook this audit to compare the efficacy and acceptability of oral (EE) and patch (Evorel) oestrogen pr...

Background: Turner syndrome (TS) is characterised by a wide phenotype and age at presentation. We reviewed our over-12s Turner clinic over a period of 10 years to evaluate pattern of diagnosis, co-morbidities and management.Subjects and method: Retrospective data analysis of patients with TS who attended the over-12s clinic (2008–2017, n=28). Data is median (IQR) or mean±SD as appropriate.Result: The age at diagn...

Granulomatosis with polyangiitis (GPA), previously known as Wegener’s granulomatosis, is a rare heterogeneous vasculitic disease characterised by necrotising granulomatous inflammation typically affecting lungs and kidneys. GPA affecting pituitary is rare and usually results in posterior pituitary involvement causing diabetes insipidus. We describe a case of GPA, presenting with pituitary involvement causing headaches and anterior pituitary hormone deficiencies.<p cla...

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GH–IGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...

Background: LHX4 encodes a member of the LIM-homeodomain transcription factor protein family that is required for development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies (CPHD).Objective/hypothesis: To investigate a cohort of patients with congenital hypopituitarism for mutations in LHX4.<p c...