Endocrine Abstracts

Introduction: Fine needle aspiration (FNA) for thyroglobulin (Tg) measurement (FNA-Tg) and for cytology (FNAC) are recommended for the evaluation of cervical lymph nodes (LN) suspected as differentiated thyroid carcinoma (DTC) metastases. LN proven to represent a metastasis of thyroid origin, change the operation plan, both prior to surgery and while encountering suspicious LN during surgery.Aim: To assess the diagnostic accuracy of a novel point-of-care...

Case history: Von Hippel–Lindau disease (VHL) was confirmed in this 36 year old gentleman when he was 13. His father’s diagnosis of metastatic renal cell carcinoma (RCC) and paragangliomas prompted genetic testing and revealed mutation c.499C>T p. (Arg167Trp) which is associated with type 2B VHL in this patient and his sister. Shortly after diagnosis, bilateral phaeochromocytomas were resected with a bilateral adrenalectomy. At age 17, the patient developed tinni...

Case history: This 32 year old lady developed anterior and posterior pituitary failure following chemotherapy, radiotherapy and bone marrow transplant for acute lymphoblastic leukaeamia in childhood and subsequent CNS recurrence. During her teens, she required GH replacement with which she was poorly compliant. She had a mastectomy and currently takes hormonal treatment for oestrogen receptor positive T2N1M1 breast cancer, which is possibly a consequence of her total body irra...

Introduction: Neurofibromatosis Type 1 (NF1) is an autosomal dominant inherited disorder, which increases the risk of developing both benign and malignant tumours. A Swedish study conducted by Zöller et al in 1997, suggested that up to 25% of these tumours are neuroendocrine in origin, of which phaeochromocytomas were the commonest with a prevalence of 0.1–6%. The association between NF1 and primary hyperparathyroidism is described in the literature but clinically ra...

A 7.7 year old girl born to consanguineous was assessed for poor growth; height −3.2 SDS, weight −2.7 SDS, BMI −0.8 SDS. Examination revealed chubby cheeks, abdominal obesity, relatively thin limbs and a suggestion of mid-face hypoplasia. There was no scoliosis or other dysmorphic features.Investigations found a 46XX karyotype and negative coeliac screen. Pituitary function testing revealed high basal Growth Hormone (GH) of 6.5 ug/l, ri...

Introduction: We present a case which highlights the non-specific nature of the presenting symptoms of adrenal failure due to bilateral adrenal haemorrhage.Case report: A 75-year-old gentleman had an uncomplicated right total hip replacement for osteoarthritis and his warfarin for atrial fibrillation was restarted on the third post-operative day before discharge. A week later, he was admitted with watery diarrhoea and vomiting. On examination, he was cli...

Directly Observed Therapy (DOT) is the World Health Organization standard used for tuberculosis treatment, where a trained health worker watches the patient swallow every dose. It can be used for patients receiving doses of Levothyroxine of more than 2 μg/kg with persistently increased TSH levels as they are considered to have thyroid deficiency refractory to treatment. Poor adherence is the most common cause of failure of therapy and if this is suspected, a supervised te...

Case report: An 11-year-old boy presented with an increasingly waddling gait and backache. He had been born small for gestational age (BW 1.8kg; -4.7 SDS) and had a history of dyspraxia and autism. He reported reasonable dairy intake and had no history of previous fractures or clinical signs of osteogenesis imperfecta (OI). Spinal imaging revealed multiple vertebral fractures. Malignancy and systemic inflammatory causes were excluded. An OI gene panel revealed a single pathoge...

Case history: An 85-year-old man with primary hyperparathyroidism, resistant to cinacalcet, presented to hospital with paranoid delusions, weakness, constipation and thirst. His past medical history was of vitamin D deficiency and arthritis of the spine. Regular medications were lansoprazole, senna, and fluticasone nasal spray. He was a never-smoker and had no relevant family history. Neck examination was unremarkable.Investigations: Corrected serum calc...

Background: Patients with low grade GI tract (GEP) neuroendocrine tumours and low grade neuroendocrine tumours of unknown primary (LG NETs) often live for many years even in the context of advanced disease. Their nutritional status is important to maintain wellbeing. Both the tumour and its treatment can potentially affect nutritional status.Method: Patients attending routine follow up appointments with the NET team in Edinburgh were invited to participa...