Endocrine Abstracts

Clinical vignette: We investigated a 33-year-old woman diagnosed during pregnancy with a 7cm unilateral adrenal mass associated with severe ACTH-independent glucocorticoid and androgen excess, a steroid phenotype usually indicative of adrenocortical carcinoma. Pregnancy had been achieved with in-vitro fertilisation on the assumption of underlying PCOS. Neonatal death occurred soon after emergency delivery due to foetal growth arrest at 26 weeks gestation. Hist...

We report a late presentation of complete androgen insensitivity syndrome (AIS) in a phenotypic female. The patient presented with primary amenorrhoea at age 37, after ten years of heterosexual marriage. She experienced monthly pelvic pain and breast tenderness but no menstrual bleeding. Her family history was significant for primary amenorrhoea in two of her three sisters. Physical examination revealed Tanner 2 breast development, reduced axillary and pubic hair, and normal e...

Background: Insulinomas are the commonest functional neuroendocrine tumours (NETs) but metastatic insulinomas are rare (incidence <2%) and their management can be challenging. We report a case of metastatic insulinoma requiring multiple treatment modalities to achieve biochemical control.Case Presentation: A 77 year old healthy female was admitted with severe spontaneous hypoglycaemia (glucose 1.8mmol/l) due to endog...

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...

Phaeochromocytoma-driven Ectopic ACTH Syndrome (EAS) is rare. We report the case of a 31-year-old female, who presented with abdominal pain and vomiting. She had clinical features of severe Cushing’s syndrome (proximal myopathy, bruising, refractory hypertension and acute confusion). Admission investigations revealed hypokalaemia (2.1mmol/l [3.5-5.5mmol/l]) and a 4.5cm left adrenal lesion with a ’bulky’ right adrenal on CT abdomen. She was diagnosed with hyperte...

Cyclic Cushing’s syndrome (CCS) is a rare condition that involves recurring episodes of hypercortisolaemia, alternating with normocortisolemia at intervals ranging from a few days to several years. To diagnose CCS, it is necessary to demonstrate three cortisol peaks and two troughs. CCS is mostly seen in females and can be Adrenocorticotropic hormone (ACTH)-dependent or independent2. The common causes of CCS are Cushing’s Disease (55% ), ectopic ACTH syndrome (26%), ...

Introduction: Pituitary – dependent Cushing’s disease accounts for approximately 80% of endogenous Cushing’s syndrome but a target lesion is only detectable on MRI in 60% of cases. 11C-methionine PET CT improves detection of indeterminate pituitary lesions. Osilodrostat is a novel steroidogenesis inhibitor which reduces cortisol levels with resultant rise in ACTH and may further enhance the sensitivity of 11C-methionine PET CT in difficult cases...

A 51 year old female presented with an Adjusted Calcium (Adj Cal) of 1.68mmol/l (Ref: 2.20-2.60 mmol/l), raised PTH 24.2 pmol/l (1.6-6.9 pmol/l) and raised Alkaline phosphatase (ALP). She had a background of type 2 intestinal failure secondary to surgical complications resulting in stoma formation. She reported peri-oral tingling, joint stiffness, cramps and generalised pain over several months which left her requiring the use of a wheelchair for mobilisation. There was proxim...

We present the case of 78-year-old female admitted to our hospital in January 2023 with recurrent hypoglycaemic episodes during fasting periods, particularly overnight and early morning. The patient had impaired hypoglycaemia awareness and cognitive decline. The only past medical history was of hypertension treated with bendroflumethiazide and amlodipine. During hospital stay, she experienced multiple hypoglycaemic episodes. Biochemical investigations revealed non-insulin-depe...

Familial Dysalbuminaemic Hyperthyroxinaemia (FDH) is characterised by mutant albumin with increased affinity for thyroxine, and to a lesser extent triiodothyronine, giving falsely elevated fT4 and fT3 levels in standard assays. This may lead to inappropriate management of euthyroid patients, and complicate diagnosis and management of thyroid disease in patients with coexistent FDH. We report a case of Graves’ thyrotoxicosis complicated by underlying FDH. A 41-year-old wom...