Endocrine Abstracts

The differential diagnosis of raised circulating thyroid hormones with normal TSH includes familial dysalbuminaemic hyperthyroxinaemia (FDH), a benign, inherited disorder caused by a variant albumin with increased affinity for thyroxine (T4) or triiodothyronine (T3). Three different albumin gene mutations, generating mutant proteins with increased affinity for either T4 (R218H,R218P) or T3 (L66P) have been commonly described. Typically, serum total T4 is raised and free T4 mea...

A 51 year old presented with headaches, fatigue and generalised weakness. She had a background history of hypertension diagnosed one year prior to presentation. Initial laboratory evaluation demonstrated life-threatening hypokalaemia, potassium 0.9mmol/l(R.I. 3.5-5.3). This profound hypokalaemia required ICU admission for replacement of potassium and monitoring. Management of subsequent fluid overload necessitated a brief period of hemofiltration. During the course of evaluati...

Introduction: Hyperandrogenism causing virilisation in postmenopausal females is rare. It is caused by abnormal ovarian or adrenal androgen production, but establishing the source of androgen excess can be challenging. Testosterone levels >5 nmol/l can be associated with virilization (Hirschberg, 2022).Case: A 75-year-old post-menopausal woman, with a 3-year history of androgenic alopecia (Ludwig scale 3/3) and hirsutism (Ferrimen Gallwey Score 32/36...

Background: Thyrotropinomas (TSHomas) are traditionally considered a rare, albeit important cause of thyrotoxicosis. Although early case series reported a predominance of invasive macroadenomas, emerging evidence suggests microadenomas are being increasingly diagnosed, and the clinical/biochemical phenotype appears to be more variable than previously suspected. We therefore performed detailed phenotyping of patients referred to our centre with a diagnosis of TSHoma over a 4-ye...

Background: Thyrotropin secreting adenomas (TSHoma) are considered to be rare pituitary tumours. However, improvements in imaging techniques and greater use of more sensitive thyrotropin (TSH) assays has led to a recent increase in the detection rate of TSHomas and, specifically, the identification of more microadenomas. Surgery is considered the mainstay of treatment, however, primary medical therapy with somatostatin analogues is an emerging alternative therapeutic option.</...

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...

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) ...

Acromegalic congestive cardiac failure (CCF) is a serious and late complication of untreated acromegaly with associated high morbidity and mortality.1 Spontaneous recovery of end stage acromegalic CCF following autoinfarction of a somatotroph adenoma has not been previously reported.We report the case of a 61-year-old woman who presented with features of severe biventricular CCF and an acromegalic phenotype. Echocardiography revealed poor LV f...

Primary resistance to Cabergoline occurs in a minority of patients with lactotroph adenomas but the development of late resistance following initial response is an extremely rare phenomenon which has only been reported in very few cases.: We report the case of a 57 year old lady who was presented in 1997 with headaches and visual failure and was found to have a large pituitary mass with compression of the optic chiasm and invasion into the cavernous sinuses bilaterally. Serum ...

Introduction: Thyroid function tests are frequently undertaken in children with non-specific symptoms suggestive of thyroid dysfunction. Infrequently, susceptibility of automated thyroid hormone assays to interference may generate misleading results, with the potential for inappropriate diagnosis and management. We report an unusual case with apparent subclinical hyperthyroidism, due to negative interference in particular TSH assay platforms, with an underlying genetic basis.<...