Endocrine Abstracts

An 82-year-old male was referred to the breast clinic with a four month history of painful right gynaecomastia (GM), without nipple discharge. A 4 cm plaque of tender, soft tissue was palpable. Physical examination and external genitalia were normal. There was no relevant drug history. Prolactin, Testosterone (T), CXR, Ultrasound and FNA of the breast were normal. LH 13.0 IU (1.5-10.0) and FSH 18.1 IU (1.5-10.0) were raised. FT3 was raised at 7.3 pmol/L (3.5-5.5) with TSH supp...

In humans only thyroid hormone (T3) receptor (TR) beta1 and beta2 mRNAs have been identified, whereas alternative splicing generates recently characterised beta3 and deltabeta3 transcripts in rat and further N-terminal isoforms in other species. We investigated whether additional transcripts arise from the human TRbeta gene by 5'-RACE. Five distinct TRbeta1 transcripts were isolated, including the previously described TRbeta1 mRNA and four novel 5'-untranslated region (5'-UTR)...

The cortisol day curve has been advocated in the assessment of glucocorticoid replacement therapy in adrenal failure but remains controversial.Objective: To determine the validity of this test within our practice.Method: A retrospective analysis using endocrine laboratory dataset.Results: 102 inpatient cortisol day curves from 76 patients were analysed. The serum cortisol was checked at 5 time points (pre and 1 hour post morning dose, before midday dose, pre and po...

A 53 year old man with ANCA-positive glomerulonephritis was referred with a 3-month history of hypercalcaemia. There was no significant family history and treatment consisted of Maxepa concentrated fish oils 5g/day for glomerulonephritis and lansoprazole plus Bisodol (proprietary indigestion preparation containing calcium, magnesium and sodium bicarbonate) for a hiatus hernia. Investigations revealed a corrected calcium concentration of 3.06 mmol/l, phosphate 1.27 mmol/l, crea...

BackgroundUnilateral forms of primary aldosteronism (PA) are usually surgically treated to remove the source of aldosterone excess. After adrenalectomy, aldosteronism persists in a subset of patients indicating abnormal aldosterone production from the unresected gland.ObjectiveTo retrospectively analyze histopathology and post-surgical outcomes in a 3-year prospective cohort of patients diagnosed with unilate...

Background: X-linked hypophosphataemia (XLH) is a genetic condition that causes significant skeletal deformities and is associated with lifelong disability and pain. In October 2018, the NHS in England recommended burosumab, an anti-FGF23 antibody, for treating XLH with radiographic evidence of bone disease in children aged 1 year and over, and in young people with growing bones. The clinical and cost effectiveness of burosumab for treating adults with XLH is ...

Introduction: Stuve–Wiedemann Syndrome (SWS) is a rare genetic condition with autosomal recessive inheritance characterized by the association of typical facial appearances, skeletal manifestations including bowed legs and dysautonomia. Only two patients with long survival have been reported in 2001. We report three children whose periodic clinical evolution could be observed in our hospital until the age of 9 years. We report a case of SWS with associate...

Objective: Diagnostic uncertainty arises for paediatric patients when establishing a diagnosis of polycystic ovarian syndrome (PCOS) due to concurrent pubertal changes. Management decisions can also therefore be challenging. The investigations and management of patients referred to the Paediatric Endocrinology Service was audited against international guidelines.Methods: Retrospective audit of patients referred with susp...

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...

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...