Endocrine Abstracts

Introduction: Meningiomas are the most common brain tumours and they express progesterone receptors. Cyproterone acetate (CPA) is a synthetic progestogen approved for use as an anti-androgen in Polycystic Ovarian Syndrome (PCOS). We report a case of meningioma probably resulting from long-term CPA treatment and a review of our PCOS cohort for further cases.Case report: A 47-year-old lady with PCOS was treated with CPA 100 mg once daily for hirsutism and ...

We present two patients with an unusual cause of primary hyperparathyroidism.A 50 year old man was referred due to incidentally noted raised serum calcium consistent with primary hyperparathyroidism (adjusted calcium 3.52 mmol/L, phosphate 0.66 mmol/L, PTH (parathyroid hormone) 99.5 pmol/L, Vitamin D 46 nmol/L). An initial neck ultrasound demonstrated a 1.2x1.7 cm left sided presumed parathyroid nodule but also a cystic 3.3x3.2x1.7...

We present two patients with an unusual cause of primary hyperparathyroidism.A 50 year old man was referred due to incidentally noted raised serum calcium consistent with primary hyperparathyroidism (adjusted calcium 3.52 mmol/L, phosphate 0.66 mmol/L, PTH (parathyroid hormone) 99.5 pmol/L, Vitamin D 46 nmol/L). An initial neck ultrasound demonstrated a 1.2x1.7 cm left sided presumed parathyroid nodule but also a cystic 3.3x3.2x1.7...

Introduction: Hypoparathyroidism may be an isolated or a component of a complex syndrome. Although genetic disorders are not the most common cause, molecular analyses have identified a growing number of genes that when defective result in impaired formation of the parathyroid glands, disordered synthesis or secretion of parathyroid hormone.Case presentation: We are reporting a 37-year-old gentleman, who is the first adult case diagnosed at our University...

Introduction: Phaeochromocytoma affects <1:100000 people per year. Wilms tumour (WT) affects almost 1:10000 children each year. Both tumours are associated with somatic genetic alterations: Phaeochromocytoma (RET, VHL, NF1, SDHA, SDHAF2, SDHB, SDHC, SDCD, TMEM127 and MAX); WT (WT1, 11p13, 11p15, tp53, NSD1, KDM3B, BRCA2). Both tumours affecting the same person have only been reported twice in the literature.Case Report: We report a lady who, at the a...

Background: The phaeochromocytoma of the adrenal gland scaled score (PASS) is used for histological reporting of phaeochromocytomas as a surrogate marker of malignant potential. A PASS score of ≥4 (of a maximum of 20) suggests an aggressive tumour and hence the importance of lifelong careful follow-up. However, the utility of the PASS score has been questioned recently due to the discordance between PASS score and clinical outcomes.Aim: To review t...

Introduction: Liquid biopsies have revolutionised cancer care, from accurate diagnosis to guiding treatment and surveillance. Here, we used shallow Whole Genome Sequencing (sWGS); a cost-effective and easy-to-perform test to explore concordance of copy number alterations (CNAs) between formalin-fixed paraffin-embedded (FFPE) tissue extracted DNA and circulating cell-free DNA (cfDNA) in patients with Thyroid Cancer (TC) during different stages of the disease. <...

Case 1: A 57-year-old lady referred to the Endocrinology department due to a CT Abdomen, performed for abdominal pain, reporting the presence of an incidental left adrenal adenoma. Imaging was reviewed in the Adrenal MDT meeting and further CT Abdomen arranged. Images were reviewed before and after oral contrast. Pre-contrast images revealed a small volume of high-density material within a rounded structure in the left upper quadrant, immediately superior to t...

Introduction: 48,XYYY is a rare condition where two extra Y chromosomes alter the neurological, skeletal and reproductive development of the affected individual. Clinical features are usually subtle and the diagnosis is not suspected until fertility issues arise. Here, were report an adult patient with 48,XYYY in the Endocrinology Clinic.Case report: A 24-year-old male was referred to UHL Endocrinology Clinic following i...

Introduction: Testosterone <5nmol/l is commonly seen in conditions such as PCOS however when testosterone is >5nmol/l, concerns start to rise about more sinister causes. Here, we present a case of a female who was referred to clinic with testosterone >5mmol/lCase: A 32 year old presented to the GP with a heavier than usual menstrual period. For an unknown reason, the GP checked testosterone, which came back a...