Endocrine Abstracts

Background: Hyperthyroxinaemia with non-suppressed TSH, due to resistance to thyroid hormone (RTH) or TSH-secreting pituitary tumour (TSHoma), can be difficult to diagnose, particularly with coincident autoimmune thyroid disease (AITD).Methods: To determine presentation patterns of AITD coincident with RTH or TSHoma, we analysed our cohort of cases with dual diagnoses.Results: Nine patients with RTH had AITD. Six had Graves’ d...

Background: Acquired male secondary hypogonadism is a relatively common cause of referral to the endocrine clinic. However, the extent to which further investigation is required, and the indications for a trial of testosterone therapy, remain unclear. Aim To review the clinical/biochemical/radiological findings in men presenting with this condition.Methods: We performed a retrospective case analysis of 41 consecutive patients referred to our clinic over ...

Case Report: A 49-year-old man presented with a two-year history of thyrotoxic symptoms for which he had been investigated on several occasions. He had a past medical history of dilated cardiomyopathy, which had been attributed to excess alcohol consumption, and had also suffered episodes of non-sustained ventricular tachycardia. His family history was strongly positive for autoimmune thyroid disease. Eventually, he was found to have an elevated fT4 (53 pmol/L, RR 12–22) ...

We report the first case of familial adrenocortical carcinoma (ACC) in association with hereditary non-polyposis colorectal cancer (HNPCC) in a family with a MSH2 germline mutation.HNPCC, an autosomal dominant disorder caused by mutations in one of the DNA mismatch repair (MMR) genes, is the commonest cause of hereditary colon carcinoma, and is associated with an increased risk of certain non-colonic cancers (e.g. endometrial, ovarian, urin...

Background: Adrenal incidentalomas (AI) are identified in 4–7% of patients >40 years undergoing abdominal CT/MRI. Evidence of subclinical autonomous glucocorticoid hypersecretion (SAGH) is found in 5–10% of cases depending on the diagnostic criteria/thresholds adopted.Aim: To examine the utility of basal DHEAS measurement in the detection of SAGH in a cohort of patients with AI.Methods: Ninety-six consecutive subjects...

Introduction: Thyrotropinomas comprise <1% of all pituitary tumours, but detection is increasing with more widespread use of ultrasensitive TSH assays. Although distinct, the classical biochemical signature – hyperthyroxinaemia with non-suppressed TSH – is not specific to thyrotropinoma, as drug effects, non-thyroidal illness, and assay interference can all yield similar patterns of thyroid function tests. Even when these more common confounders have been exclude...

Congenital hypothyroidism (CH), occurs with a frequency of one in 3–4000 and is most commonly due (85%) to complete or partial failure of thyroid gland development (dysgenesis). Several transcription factors (TTF-1/Nkx2.1, TTF-2/FOXE1, PAX-8), are highly expressed in the developing rodent thyroid. We first showed that the FKHL15 gene is the human homologue of TTF-2, identifying a homozygous, loss-of-function, mutation in two siblings with CH, thyroid agenesis, clef...

The localization of biochemically proven insulinoma remains a challenge despite the advent of more sensitive methods for radiological detection. We report a case with conflicting cross-sectional, angiographic and scintigraphic findings, in which selective angiography combined with intra-arterial calcium stimulation and hepatic venous sampling (ASVS) proved to be the most accurate localizing investigation.A 17-year-old female with cerebral palsy and learn...

Previously we reported two loss-of-function dominant negative mutations (P467L, V290M) in human peroxisome proliferator-activated receptor gamma (PPARg) in three individuals with severe insulin resistance, early onset type 2 diabetes mellitus (T2DM) and hypertension. Subsequent detailed clinical and radiological evaluation of these subjects has revealed that each exhibits a stereotyped pattern of partial lipodystrophy affecting the limbs and buttocks. Recently a female with pa...

We have previously reported dominant negative missense mutations (P467L, V290M) in human PPAR gamma (peroxisome proliferator-activated receptor gamma) in association with severe insulin resistance, early onset type 2 diabetes and hypertension. In a large UK kindred, where the proband presented at age 15 years with severe insulin resistance (acanthosis nigricans, hyperinsulinaemia, PCOS), we have identified a novel heterozygous frameshift premature stop mutation in the PPAR gam...