Endocrine Abstracts

Although MRI remains the investigation of choice for pituitary imaging, it does not reliably identify all secretory microadenomas, and cannot always discriminate residual tumour from post-surgical change following hypophysectomy. We hypothesised that i) imaging with the PET ligand 11C-methionine, which is taken up at sites of peptide/protein synthesis, would permit more reliable identification of functioning pituitary adenoma, and ii) co-registration of PET–CT ...

Background: Pituitary carcinoma occurs in ~0.2% of resected pituitary tumours, and carries a poor prognosis (mean survival <4 years), with standard chemotherapeutic regimens showing limited efficacy. However, recent evidence suggests that temozolomide, an orally active alkylating agent used principally in the management of glioblastoma, may also be effective in controlling aggressive/invasive pituitary adenomas/carcinomas. Low levels of expression of the DNA-repair enzyme ...

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: 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 ...