Endocrine Abstracts

Background: Neuroendocrine tumours (NETs) are a heterogenous group of malignancies that frequently metastasise to other organs. Both breast cancer and NETs have a predilection for liver, lymphatic and bone metastases. We report the investigations and management of a patient with concurrent small bowel NET and breast cancer.Case: 66 year-old female. Presented with 2 years of abdominal pain, diarrhea and flushing. Octreoti...

Introduction: Endocrine society guidelines advocate early colonoscopy and monitoring for acromegaly-associated complications and recurrence. We aimed to establish whether people with acromegaly under our care received appropriate monitoring.Methods: Patients under follow-up with acromegaly diagnosed 1989-2021 were included. Electronic health records were accessed for clinic letters, colonoscopy reports, blood and imaging results from the diagnosis to rec...

Introduction: Levothyroxine, the standard therapy for hypothyroidism, is usually well tolerated and very few cases of true allergy to levothyroxine have been reported to date. Here we report two cases of rare occurrence of levothyroxine allergy.Case 1: A 56-year-old woman with no previous history of allergies started levothyroxine post-thyroidectomy for Graves’ disease. She developed facial flushing and urticarial rash within 15 minutes of the first...

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...

Studies of TSHR−/− mice suggest that TSH inhibits bone turnover, but these mice have congenital hypothyroidism and the actions of TSH cannot be separated from effects of thyroid hormone deficiency. We characterised skeletal development in hyt/hyt mice, which have a point mutation in the Tshr gene, and Pax8−/− mice with thyroid gland agenesis. Hyt/hyt mice have a 100-fold increase in TSH but inactive TSHRs, whereas Pax8&...

Introduction: Sphingosine-1-phosphate lyase (SGPL1) catalyses the final step in sphingolipid metabolism, irreversibly degrading the lipid signalling molecule sphingosine-1-phosphate (S1P). The relative abundance of S1P compared to its precursors sphingosine and ceramide finely tunes signal transduction for a wide range of cellular pathways including proliferation, apoptosis, migration and calcium handling. Loss-of-function mutations in SGPL1 cause a spectrum of disorders, incl...

Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency with retention of normal mineralocorticoid production. FGD causing mutations in the MC2R accessory protein, MRAP, often occur at the canonical donor splice-site of intron 3, presumed to result in skipping of the first coding exon with unknown consequences at the protein level. DNA from three patients (0 - 6 months) with high ACTH and/or low cortisol levels underwent whole e...

The non-specific symptoms of Addison’s disease may be attributed to other conditions with consequent delay in diagnosis. We describe such a case of novel presentation. A 61 year old female presented with a one-day history of vomiting, abdominal pain and 15kg weight loss over 6 months. PMH: hypertension of 15 years duration, chronic kidney disease (CKD3) for 7 years and hysterectomy for endometrial carcinoma 8 years earlier. Examination: dehydrated, sinus tachycardia 110 b...

Spontaneous resolution of primary hyperparathyroidism following infarction for parathyroid adenomas is rare with infarction on treatment with cinacalcet being even rarer. A 53 year old female who presented to primary care with malaise was found to have biochemical evidence of primary hyperparathyroidism with adjusted calcium 3.31 mmol/l and parathyroid hormone 28.8 pmol/l. Previous medical history was unremarkable. Following discussion with endocrinology, treatment with cinaca...

Introduction: Diabetic ketoacidosis (DKA) remains a common presentation of type 1 diabetes (T1D) in children. During the COVID-19 pandemic, rates of presentation in DKA increased. Electrolyte abnormalities can occur during DKA treatment, but they are uncommon at presentation. We report a teenage girl with new-onset T1D presenting in severe DKA, complicated by profound hypokalaemia and hypernatremia. Case Report: A previously healthy 13-year-old girl was ...