Endocrine Abstracts

Subclinical hypercortisolism (SH) occurs in 5–30% of incidentally-detected adrenal adenomas (AIs). Common screening tests for ACTH-independent hypercortisolism have significant false positive rates, mandating further investigations that are both time and resource intensive. We investigated whether a low basal DHEAS level is a sensitive and specific screening test for the detection/exclusion of SH in patients with newly-diagnosed AI. We recruited 185 consecutive patients w...

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: 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...

Case History: A 49 year old man was referred from primary care with clinical features of thyrotoxicosis, including weight loss, anxiety and palpitations, over the previous four months. The patient had a 20 year history of abnormal thyroid function, characterised by elevated fT3 and fT4 with normal TSH. He had been previously assessed by the regional thyroid service 12 years prior and diagnosed with thyroid hormone resistance syndrome (RTH). This was based on clinical and bioch...

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...