Endocrine Abstracts

Peroxisome proliferator activated receptor gamma (PPARγ), a ligand-inducible transcription factor, is essential for adipocyte differentiation and lipogenesis. We previously described a kindred in which some individuals were heterozygous for a frameshift/premature stop mutation, (A553ΔAAAiT)fs.185(stop186) in PPARγ, with the truncated protein being non-functional and lacking dominant negative activity1. PPARγ null heterozygotes had norm...

BACKGROUND: Primary hyperparathyroidism (HPT) is increasingly diagnosed, particularly in an older population. Recent studies indicate improvement in bone mineral density (BMD) and psychological wellbeing even following treatment of apparent asymptomatic disease, supporting a lower threshold for surgical intervention. With disease being due to a solitary adenoma in most (83%) cases, we have utilised preoperative imaging together with intra-operative parathyroid hormone (IOPTH) ...

Background11C-methionine (11C-Met) positron emission tomography co-registered with MRI is a new imaging technique used for functioning pituitary adenomas, permitting targeted intervention (Transphenoidal Surgery (TSS) or Radiotherapy)1. The 11C-Met PET-CT scan has been available in our centre since Dec 2016. With limited availability in 2019/2020 (due to cyclotron refurbishment) we re-audited our patients to prioritise th...

Background: 11C-methionine positron emission tomography (Met-PET) is a potentially important imaging adjunct in the diagnostic workup of pituitary adenomas, including somatotroph tumours. Met-PET can identify residual or occult disease and make definitive therapies accessible for a subgroup of patients who would otherwise require lifelong medical therapy. However, data on its use is still limited to small case series. Here, we report the currently largest sing...

A 19-year-old gentleman, with Coffin-Siris-Syndrome(CSS)(ARID1B:c.6157dup gene-mutation), was referred to our endocrinology clinic, with rapid weight-gain and recent onset of Type-2-Diabetes. He was of short stature, he had central-adiposity, facial plethora, proximal myopathy and gynaecomastia. Endocrine testing revealed ACTH:61ng/l, Cortisol:772nmol/l, Total-Testosterone:2.8nmol/l, FSH:6.3U/l, LH:2.2U/l, Prolactin:87mU/l, IGF-1:61ug/l, TSH:0.18mU/l, T4:10.3 pmol/l, HbA1C:84m...

Introduction: Loss-of-function mutations in IGSF1 result in X-linked congenital central hypothyroidism (CeCH), occurring in isolation or in association with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred.Methods/Design: A novel, hem...

Background: Loss-of-function mutations in IGSF1 result in X-linked congenital central hypothyroidism (CeCH), occurring in isolation or in association with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred.Methods: A novel, hem...

Background: Loss-of-function mutations in IGSF1 result in X-linked congenital central hypothyroidism (CeCH), occurring in isolation or in association with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred.Methods: A novel, hem...

Background: After adrenalectomy (ADX) for primary aldosteronism (PA), approximately 30% of patients achieve clinical success (normalisation of home BP); many additional patients report feeling subjectively better. We used the non-randomised MATCH study1 to further assess quality of life (QoL) changes in participants.Objective: Assess QoL using the 36-item Short Form Health Survey (SF-36) after surgical treatment of unilateral PA and medical treatment of ...

Primary aldosteronism (PA) is the potentially curable cause of high-risk hypertension in 5-10% of unselected patients. Diagnosis and lateralisation of PA is challenging and complex. Outcomes post total adrenalectomy, the standard treatment for unilateral aldosterone producing adenomas (APAs), are variable. Between 30-60% are cured (1), but prediction of outcome is unreliable, and some patients are reluctant to have abdominal surgery to remove a whole adrenal gland. Endoscopic ...