Endocrine Abstracts

Background: Although early studies with IPSS reported a diagnostic sensitivity and specificity approaching 100%, additional experience has revealed a false negative rate of 1–10%. Previous studies have suggested that the measurement of other anterior pituitary hormones may be useful as a guide to the effectiveness of cannulation and to improve diagnostic accuracy.Method: In this retrospective cohort study, we reviewed all patients who had undergone ...

Case history: 58 year old man presented with collapse secondary to profuse water diarrhoea. He had severe AKI, hypokalaemia, metabolic acidosis, hyponatraemia and hypercalcaemia. He had fluid and electrolyte replacement he in ICU, but profuse diarrhoea persisted and with it, was in hypotension and delerium. He had been having progressive diarrhoea and weight loss for 2 years while he was in South Africa.Investigations: Upper and lower GI endoscopies had ...

Introduction: Thyroid hormone resistance due to a TRα mutation is rare and only recently described. We report a case of primary hyperparathyroidism in an adult patient with a known TRα mutation.Case presentation: A 60 year old female was referred with hypercalcaemia and hyperparathyroidism that persisted despite correction of vitamin D deficiency. Parathyroid hormone levels continued to be elevated or inappropriately normal with hyper- or normo...

Continouos subcutaneous hydrocortisone infusion (CSHI) is a novo treatment for adrenal insufficieny. This treatment aim to mimic body circadian rhythm by providing a continouos slow infusion subcutanously.We summarise our experience with 5 patients: 1 with primary adrenal insufficiency and 4 with secondary adrenal insufficiency. There are 1 male and 4 females with a mean age 31. All these patients were self referred and have tried ...

Continouos subcutaneous hydrocortisone infusion (CSHI) is a novo treatment for adrenal insufficieny. This treatment aim to mimic body circadian rhythm by providing a continouos slow infusion subcutanously.We summarise our experience with 5 patients: 1 with primary adrenal insufficiency and 4 with secondary adrenal insufficiency. There are 1 male and 4 females with a mean age 31. All these patients were self referred and have tried ...

A 31-year-old man originally from Ukraine attended the clinic having been started on Carbimazole 20 mg by his GP. His symptoms included intermittent palpitations, sweating and poor sleep and they had improved since starting anti-thyroid therapy. He was originally diagnosed with thyrotoxicosis in Germany in 1999 but was not treated and he re-presented in 2005. This time he was started on Carbimazole but stopped treatment on his own accord after a month because his symptoms impr...

A 60 year old lady was diagnosed with thyrotoxicosis in 1985 (aged 28) five months postpartum. She underwent partial thyroidectomy in 1990 (age 32). Thyroid tests remained abnormal and in 1992, she underwent radio-iodine treatment requiring post-treatment. She remained under endocrine supervision and the TSH was found to be persistently elevated with normal free thyroid hormone levels (whilst on Levothyroxine). Issue with compliance and assay interference were considered. She ...

Introduction: Advances in the understanding of the natural history and genetics of phaechromocytomas and paragangliomas have altered the demographics of these conditions resulting in much higher rates of malignancy and association with known genetic abnormalities.Objective: To analyse the clinical and biochemical features of hereditary (H) and sporadic (S) phaeochromocytomas and paragangliomas.Design: Retrospective case-series at G...

Pathogenic variants in the SDHx genes are responsible for ~20% of familial Phaeochromocytoma/Paraganglioma (PPGL) tumours. Metastatic disease is lower in SDHD in comparison to SDHA, B and C mutations. Although the genotype-phenotype relationship is not well established it is considered that truncating SDHD pathogenic variants have a higher risk of causing disease in comparison to missense variants. We present two cases of metastatic paraganglioma in patients with heterozygous ...

68 years old female initially referred to endocrine clinic in November 2016 for assessment of fluctuating thyroid function. She had a history of long standing primary hypothyroidism, stable on treatment with 100 mcg Levothyroxine. In last one year, Levothyroxine was tapered and stopped due to persistent suppression of TSH and high normal Free T4. Last tests showed TSH of <0.01mIU/l and Free T4 of 27.1 pmol/l. She had ongoing complaints of feeling increasingly tired and gen...