Endocrine Abstracts

Case history: We report a 38 year-old Caucasian woman with classical salt wasting congenital adrenal hyperplasia (CAH) who increasingly omitted medication in adolescence and eventually spent over 10 years without any adrenal replacement therapy or adrenal crises and became lost to follow up. When seen, she complained of increasing abdominal girth, fatigue, hirsutism, had type 2 diabetes, had never had a romantic/sexual relationship and was amenorrhoeic. Examination revealed ab...

Case history: A 17 year old previously healthy male presented to his local emergency department with a generalised tonic seizure associated with severe hypertension (systolic blood pressure 240 mmHg) and tachycardia. He was intubated and admitted to the Intensive Care Unit. Antimicrobials to cover meningoencephalitis were commenced and his hypertension was managed with intravenous labetalol. He was extubated the following day. He had experienced headaches on a monthly basis fo...

Parathyroid carcinoma (PTC) is a rare condition that lacks pathognomonic features, making diagnosis and therefore management challenging. In the very few cases of intra-thyroidal PTC reported, failure to achieve a pre-operative diagnosis has often led to unnecessary bilateral neck exploration and re-operation. We describe for the first time a case of intra-thyroidal PTC suspected pre-operatively. A 37-year-old Bangladeshi man presented with a 3-week history of mood changes, mu...

A 24-year-old girl was referred with a massive thyroglossal duct cyst (TGDC) and an intra-cystic papillary thyroid cancer (PTC). The impressive clinical photographs, striking radiological images and histology slides are presented.She presented eight and half months post partum with a 10 cm midline neck lump of 4 years duration. She was asymptomatic and was on levothyroxine for Hashimoto’s thyroiditis.Clinically, there was a cy...

A 21-year-old woman with homozygous sickle cell disease, presented to A&E with vomiting and diarrhoea, and was noted to be hypercalcaemic (corrected calcium 3.00 mmol/l [ref. 2.2–2.6]; phosphate 0.48 mmol/l [ref. 0.8–1.5]). She reported polyuria and polydipsia, but no other symptoms of hypercalcaemia. There was no history of renal stones, renal impairment, or fragility fracture. A maternal aunt required parathyroidectomy in middle age. Bloods revealed PTH 138.4 pmo...

Case history/Investigations/Results and treatment: A previously healthy 36 year old female was admitted to a local intensive care unit with psychosis and intractable hypokalaemia. She had delivered a live preterm baby girl at 33 weeks gestation ten days previously. The hypokalaemia led to an endocrine consultation which revealed onset of symptoms in the third trimester, with no symptoms present pre-conception. Serum cortisol was 2,258 nmol/l with a nadir K+ of 2.2 mmol/l. She ...

Background: Primary hyperparathyroidism is the third most common endocrine condition in pregnancy after thyroid disease and diabetes. Untreated hypercalcaemia due to primary hyperparathyroidism increases the risk of miscarriage, intrauterine death and preterm labour. Pharmacological and surgical limitations in pregnancy often make diagnosing and managing this condition challenging. We report a complex case of hypercalcaemia-induced -psychosis due to primary hyperparathyroidism...

Introduction: Primary aldosteronism (PA) is both the most common form of secondary hypertension and a high-risk subset associated with increased cardiovascular, cerebrovascular and renal morbidity compared to essential hypertension. Unilateral PA is amenable to surgery, biochemical cure and reversal of this excess risk; whilst bilateral disease is best treated through mechanism-directed medical therapy. Currently, PA subtype classification relies on adrenal venous sampling (AV...

Introduction: Patients with the familial cancer syndrome von Hippel–Lindau disease (VHL) are enrolled in radiological screening programmes which aim to identify tumour development at an early stage. This facilitates timely intervention to lesions when the risk of metastatic spread is low and when they are conducive to less-invasive and parenchymal-sparing interventions, thereby minimising treatment-related morbidity. A number of international screening protocols exist, al...

Primary aldosteronism (PA) is an important cause of hypertension which confers significant cardiometabolic risk. In approximately half of cases, the cause is a surgically resectable unilateral aldosterone-producing adrenal adenoma, making PA the most common potentially curable form of hypertension. Despite this, long-term data on surgical outcomes that could be used to guide discussions with patients are sparse. Here, we report on clinical outcomes several years post-adrenalec...