Endocrine Abstracts

Although MRI remains the investigation of choice for pituitary imaging, it does not provide information about ‘functionality’ of lesions (e.g. residual adenoma vs post-surgical scar tissue) and cannot reliably identify all microadenomas.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 ...

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: 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: Although MRI remains the investigation of choice for pituitary imaging, it does not provide information about the ‘functionality’ of lesions (e.g. residual adenoma vs post-surgical scar tissue), and cannot reliably identify all microadenomas. These limitations are of particular relevance in acromegaly where clinical and biochemical evidence of disease activity mandates (further) treatment.Methods: We hypothesised that i) imaging wit...

: Elective central compartment neck dissection in the treatment of differentiated thyroid carcinomas (CDT) remains controversial. In a series of 1500 patients undergoing thyroid surgery, the authors evaluated the prognosis related to central compartment neck metastasis in differentiated microcarcinomas....

Background: Primary aldosteronism (PA) is the leading, potentially reversible, cause of secondary hypertension. For most patients in whom surgery is being considered, adrenal vein sampling (AVS) is recommended to distinguish unilateral and bilateral causes. However, AVS remains technically challenging, and a significant proportion of patients are unable to progress to surgery because AVS is unavailable or unsuccessful. We have explored whether [11C]Metomidate PET/CT...