Endocrine Abstracts

Pituitary metastases are reportedly uncommon. Here we report two cases illustrating metastases responding to systemic anticancer therapy (SACT). A 49-year-old woman with metastatic renal cell carcinoma treated with combination ipilimumab and nivolumab immunotherapy was referred for hypocortisolaemia (morning cortisol 74 nmol/l). Biochemical screening revealed an adrenocorticotropic hormone of 16ng/l (0-46), thyroid-stimulating-hormone 0.1mU/l (0.55-4.78), free thyroxine 7 pmol...

Endocrine nursing practice has been changing, with the advent of more autonomous roles, involving nurse led clinics and independent prescribing, with more complex clinical case management. However, recent research highlights the emphasis on optimum patient care, but scope of practice is not always clear, leading to unequal balance in skills and capabilities, qualifications, and Agenda for Change (AfC) bandings. This study explored the remit, job components, and capabilities of...

Background: Mutations in the RET proto-oncogene occur in about 70% of medullary thyroid cancers (MTC) and is central in its pathogenesis. Two highly selective RET inhibitors, selpercatinib and pralsetinib, are FDA/EMA-approved in RET-altered thyroid cancers. We share our experience of these drugs in metastatic MTC.Methods: Data were collected retrospectively from 19 patients commenced on selective RET inhibitors for MTC ...

Polycystic ovary syndrome (PCOS) is a multifactorial, complex endocrine disorder affecting a significant proportion of the global population. Aberrant secretion and/or action of gonadotropins is implicated in PCOS, but, to date, we have only limited knowledge about the precise mechanisms involved. We therefore studied LHR expression, signalling and trafficking in GLCs from women with and without PCOS. GLCs from women with PCOS exhibited enhanced Gαs-cAMP signalling respon...

CFTR modulators are drugs that enhance/restore the expression, function, or stabilize the defective CFTR protein in patients with cystic fibrosis (CF). These modulators have shown marked improvements in lung function and quality of life for people with CF but their role in glucose tolerance is still unclear1. At Nottingham Children’s Hospital, children with CF are eligible for kaftrio treatment (Elexacaftor/tezacaftor/ivacaftor CFTR modulator) from 10 years of ...

Introduction: Activating mutations of Glucokinase (GCK) gene are described as a rare genetic aetiology of Congenital Hyperinsulinism (CHI), which can cause variable disease severity. However, cardiac anomalies such as aortic valve disease have not been reported as a feature of this genetic form of CHI. We describe two patients diagnosed with GCK-CHI and aortic valve disease.Case 1: A twelve-month-old female presented at ...

Introduction: Glucocorticoids (GCs) play a crucial role in various physiological processes, with adipose tissue (AT) being an important target organ for their metabolic actions. Besides lipolytic action, the mechanistic regulation of GCs in human AT during physiological exposure is still unclear. We integrated transcriptomic and metabolomic data within the AT to identify mechanistic markers of GC action.Methods: In a randomised, cross-over trial, ten pat...

Management of ACC is difficult. Diagnosis usually occurs at an advanced disease stage. Resection of localised disease offers a potential cure, but recurrence is common (75-85% of cases). For the treatment of unresectable/metastatic disease, mitotane is the only approved drug, alongside M-EDP chemotherapy. Mitotane has a narrow therapeutic window and is poorly tolerated. Additionally, ACC is a heterogenous disease regarding phenotype, genotype, disease progression and resistanc...

Background: The water deprivation test serves as a key diagnostic test to differentiate between Arginine Vasopressin Deficiency (AVP-D), Arginine Vasopressin Resistance (AVP-R), and Psychogenic Polydipsia (PP) in patients presenting with symptoms of polydipsia and polyuria, when common causes such as diabetes mellitus have been excluded. This study evaluated the established diagnostic values for serum osmolality, serum sodium, and urine osmolality.Method...

Introduction: The most common causes of hypercalcemia are primary hyperparathyroidism and malignancy. Malignancy-related hypercalcemia occurs in approximately 20% - 30% of all cancer patients during their clinical course and mainly affects patients with solid tumors such as breast carcinoma.Case Report : 57 yrs old woman was referred for hypercalcemia and osteoporosis. Laboratory: calcium 2.8 mmol/l (normal range 2.15 - 2.55) calculated ionized calcium 1...