Endocrine Abstracts

Background: Heightened awareness, as well as frequent thyroid function testing, have contributed to a recent rise in the incidence of thyrotropinomas. Microadenomas are now increasingly being recognized. The classical textbook description of thyrotropinomas is based on historically reported features in patients who typically had large/invasive lesions. The phenotype of microTSHomas could therefore differ.Methods: We reviewed the records of all TSHomas re...

Background: Congenital, isolated, central, hypothyroidism (CCH), is rare and evades diagnosis on TSH-based congenital hypothyroidism screening programmes in the UK. Genetic ascertainment is therefore paramount in enabling prompt diagnosis and treatment of familial cases. Recognised causes include TSHB and IGSF1 gene defects, with only two previous reports of biallelic, highly disruptive (nonsense; R17X, in-frame deletion and missense; p.S115-T117del+T118), mu...

Background: Congenital, isolated, central, hypothyroidism (CCH), is rare and evades diagnosis on TSH-based congenital hypothyroidism screening programmes in the UK. Genetic ascertainment is therefore paramount in enabling prompt diagnosis and treatment of familial cases. Recognised causes include TSHB and IGSF1 gene defects, with only two previous reports of biallelic, highly disruptive (nonsense; R17X, in-frame deletion and missense; p.S115-T117del+T118), mu...

Background: Adrenal vein sampling (AVS) remains the gold-standard for distinguishing unilateral and bilateral disease in primary aldosteronism (PA). However, it is invasive, technically demanding, and may yield inconclusive or equivocal results. 11C-Metomidate PET-CT (11C-MTO-PET-CT) is a non-invasive alternative to AVS for localising unilateral aldosterone-producing adenomas (APAs).Methods/patients: We report a retrospective analys...

Background: Endocrine Society guidelines classify macroprolactinomas as ‘resistant’ if there is failure to normalise prolactin, or to achieve radiological tumour shrinkage of >50%, on standard doses of dopamine agonist. In this context, escalation of treatment to maximal tolerable doses and/or referral for surgery is advised. However, we have recently observed several ‘discordant responders’, where tumour shrinkage lags significantly (>6 months) beh...

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 ...

Introduction: Adrenocortical carcinoma (ACC) is a rare but devastating malignancy. We performed a review to determine outcome in our patient cohort.Of 20 patients 14 were females, six males. Median overall survival was 27.5 months (range 1–168), nine being deceased. Mean age at presentation 52.3 years (range 18–71). The majority of cancers were large; 5% ≤5 cm, 40% 5–10 cm, 55 >10 cm. 25% had stage IV disease, 10% stage III, 55% ...

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 ...