Endocrine Abstracts

Introduction: Approximately 5-10% of PHPT cases are hereditary. One such hereditary cause of PHPT is Hyperparathyroidism-jaw Tumour Syndrome (HPT-JT) caused by an autosomal dominant mutation in cell division cycle 73 (CDC73) that impairs parafibromin, a protein with antiproliferative activity. HPT-JT is characterised by parathyroid tumours, ossifying jaw fibromas, renal tumours and uterine tumours. We report a familial case of HPT-JT caused by a novel CDC73 mutation.<...

Background: Spontaneous coronary artery dissection (SCAD) is a rare condition, which is sometimes underdiagnosed in patients with chest pain and presumably normal coronaries. There have been a few case reports of patients with thyroid dysfunction and arterial dissections.Case: We present a 20 year old female with recent diagnosis of Graves’ thyrotoxicosis managed with methimazole. She initially presented in South Korea with shortness of breath on ex...

Introduction: Normocalcaemic hyperparathyroidism (nHPT) is a persistently elevated parathyroid hormone (PTH) with normal ionised calcium levels in the absence of secondary hyperparathyroidism. nHPT is proposed to be an earlier phase of hypercalcaemic primary hyperparathyroidism (PHPT). nHPT patients can present with progressive complications such as osteoporosis and nephrolithiasis. Currently, there is no diagnostic test to confirm primary hyperparathyroidism in nHPT patients,...

We present the case of a 35-year-old woman who was well until pregnancy 4y previously in Israel. Her antenatal course was uncomplicated. She breastfed postpartum and a few months into this she experienced acute back pain on reaching for a nappy. MRI demonstrated six vertebral fractures. DEXA scan confirmed osteoporosis (lumbar T-score −4.3, hip T-score −3.3). She received a single dose of denosumab. She moved to the UK 2y later and was referred to our Endocrine Bon...

Introduction: Ectopic parathyroid tissue is a rare cause of primary hyperparathyroidism (PHPT). Intrathyroid location has been reported in 18–33% of cases.Case report: A 67-year-old Caucasian female was admitted for evaluation of multi-nodular goiter and normocalcaemic PHPT. The patient was asymptomatic; her medical history was remarkable for hypertension, dyslipidaemia, and albuminuria. Her family history has positive for albuminuria.<p class="...

Background: It is estimated that 1-6% of patients with a pituitary adenoma develop ocular nerve palsies. These are primarily due to tumour extension into the cavernous sinus and most commonly affect the 3rd cranial nerve. Because of its sheltered position within the sinus, the 6th cranial nerve is rarely affected. When this does occur, it most commonly results from ischemic neuropathy secondary to diabetes, hypertension or mononeuritis multiplex.<p cl...

A 62-year-old man was referred from secondary care with a long history of recurrent ureteric colic, borderline hypercalcaemia with parathyroid hormone level in the low-normal range and a normal serum phosphate. There was no family history of kidney stones or osteoporosis and no history of childhood urinary infections.Repeated biochemistry at presentation was as follows: PTH 2.1 pmol/l (1.1–6.8), corrected calcium 2.56 mmol/l (2.15–2.55), phosph...

Aim: In the thyrotoxicosis local investigation protocol, Tc99m pertechnetate scintigraphy technetium scan is used to assess the presence of thyroid uptake and both the degree and pattern of uptake. TSH receptor antibodies are used to demonstrate the presence and activity of autoimmune thyroid disease. We audited the utility of these investigations in a series of thyrotoxic patients.Methods: Forty-nine patients (11 men, 38 women, mean age 47.5±38) we...

A 23-year-old Rwandan lady was 27 weeks pregnant and reported feeling non-specifically unwell for 3 days followed by 24 h of diarrhoea and vomiting. She denied fever, rash, polyuria, polydipsia, weight loss or foreign travel. She has sickle cell trait with no other past medical history. Laboratory glucose at 16 weeks gestation was 5.1 mmol/l.On admission she looked unwell and was tachycardic and dehydrated. Her capillary blood glucose was 17.9 mmol/l and...

Background: Mutation in the CYP24A1 gene can have variable phenotypes including infantile hypercalcemia and adult-onset hypercalcemia, hypercalciuria, nephrocalcinosis, or nephrolithiasis. CYP24A1 gene mutation is a rare but important cause of PTH-independent hypercalcemia.Case Presentation: We describe a case of a 67-year-old gentleman who presented with lethargy, fatigue and weight loss. He was found to have PTH-indepe...