Endocrine Abstracts

We report a rare case of acute myeloid leukaemia (AML) with high risk cytogenetics and associated hypothalamic diabetes insipidus (HDI).A 48-year-old female presented to her GP with a 3-month history of tiredness and lethargy. Full blood count revealed haemoglobin 7.0 g/dl (MCV 103fl), white cell count 12.1×109/l (neutrophils 1.33×109/l), platelets 91×109/l; circulating blast cells were evident on the perip...

We report a falsely elevated blood spot thyrotrophin (TSH) concentration caused by a TSH-IgG complex. A routine blood spot screen returned a whole blood TSH of 213 mU/l from a one week-old neonate using the Wallac DELFIA method. Measurement in serum confirmed elevated TSH (826 mU/l, Roche Elecsys assay) but free thyroxine (17.2 pmol/l) was normal. The baby’s mother was clinically euthyroid but also showed discordant high serum TSH (287 mU/l) with normal free thyroxine (13...

Introduction: Congenital hypothyroidism is caused by abnormal development or function of the thyroid gland. Early detection through heel prick screening and treatment prevents irreversible adverse neuro developmental outcome. The national screening program for congenital hypothyroidism in the UK has extremely low false positive rates. We describe 4 siblings with falsely raised TSH related to maternally transmitted macroTSH.Case s...

Case history: A previously healthy 39 year-old male presented to his optometrist with visual disturbance. Visual field perimetry confirmed bitemporal hemianopia, prompting referral to endocrinology. On questioning, he reported an increase in hand and shoe size, but no headache or diaphoresis. Examination revealed classical acromegaloid features including prognathism, spatulate hands and prominent orbital margins, as well as marked bilateral macro-orchidism.<p class="abstex...

Acromegaly is a clinical manifestation of excessive peripheral growth hormone (GH) action. Most cases result from pituitary somatotroph adenomas displaying varying degrees of GH immunoreactivity. Occasionally, GH is cosecreted with a second hormone from adenomas containing mixed cell populations (e.g. somatolactotroph tumours). Coexistence of multiple discrete adenomas, identical or distinct in hormone secretion, is infrequent. In very rare cases, acromegaly results from neuro...

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: BIPSS remains the gold standard for differentiating pituitary and ectopic sources in ACTH-dependent Cushing’s syndrome. A pituitary:peripheral ACTH ratio >2 in the basal state, and/or >3 following CRH stimulation, is considered indicative of pituitary Cushing’s, with a range of sensitivities and specificities cited in the literature. In addition, in Cushing’s disease a peak interpetrosal gradient of >1.4 has been reported to predict the s...

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: 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) ...