Endocrine Abstracts

A 34 weeks pregnant woman was reviewed in the joint antenatal clinic with over a month history of neck swelling. Her thyroid function tests showed TSH of 1.39 mU/l and a free T4 of 11 pmol/l. An initial ultrasound of the neck revealed a solitary heterogeneous nodule in the right lobe of the thyroid consistent with U3 morphology (indeterminate). She was reviewed by ENT consultant and had a fine needle aspiration (FNAC). Cytology was consistent with features of papill...

A 61-year-old ex-smoker with a background of chronic obstructive pulmonary disease, bilateral cataracts and advanced retinitis pigmentosa presented in April 2014 with a 5 months history of feeling generally unwell and weight loss. He was found thyrotoxic with TSH suppressed to less than 0.01 mU/l, free T4 of 38 pmol/l and free T3 of 26 pmol/l. On examination there was tunnel vision bilaterally and diplopia in all directions with no evidence of thyroid eye...

We describe a case of a male who presented to a rheumatologist with hypercalceamia at the age of 22 in 1995. Investigations were incomplete and he was lost to follow up. He was referred to a general surgeon in 2002 as another blood test had showed hypercalcaemia of 2.8 mmol/l (2.2–2.6), parathyroid hormone 9.5 pmol/l (1.6–6.9). A spot urine calcium/creatinine excretion ratio was 0.014. It was felt he probably had primary hyperparathyroidism and he was managed conserv...

Case history: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by heterozygous pathogenic variants in the FLCN gene encoding folliculin on chromosome 17p11, first described clinically in 1975. It is a ‘hamartomatous’ disorder usually manifesting with pulmonary cysts, benign cutaneous tumours and conferring a high risk of renal malignancy. A 43 year old man had a 34 x 22 mm right adrenal nodule discov...