Endocrine Abstracts

Background: The role of ferroptosis – a regulated form of cell death – in the pathophysiology of aldosterone-producing adenomas (APA) is unclear.Objective: To identify mechanisms of ferroptosis in human adrenal cells and translate these findings to APA pathophysiology.Methods: Cell death detection, lipid ROS generation and mRNA sequencing were performed on HAC15 cells treated with the specific ferroptosis inducer RSL3 (1,...

Introduction/Background: Patients with NETs and acromegaly are commonly treated with somatostatin analogues (SSAs), such as octreotide and lanreotide depot formulations. The Pharmathen syringe is now available in several European countries and the USA for lanreotide depot injection. When using SSAs, confidence in and ease of use with syringes is important for decision-making in long-term therapy.Aims: PRESTO 3 compared nurses’ preference for the Som...

Background: SGPL1 carries out the final degradative step of the sphingolipid pathway, irreversible cleavage of sphingosine-1-phopshate. SGPL1 deficiency is associated with a pathological accumulation of sphingolipid species and a multi-systemic condition incorporating primary adrenal insufficiency (PAI). Sphingolipid intermediates, ceramide and sphingosine are postulated to act as modulators of the steroidogenic pathway, acting as second messengers altering downstream expressi...

Case history: A 14.5-year-old girl was brought forward by her mother to the paediatric endocrine clinic in view of virilised genitalia, absent breast development and primary amenorrhoea. Her genital appearance had changed gradually throughout childhood though she never disclosed this to her parents. She was otherwise healthy with no significant family history of note. On examination, she had fused labioscrotal folds containing 10–12 ml testis. There was no obvious vaginal...

Reproductive timing strongly influences the fitness of the individual. While most vertebrates rely on photoperiodic changes to induce seasonal reproduction, the arctic ground squirrel (AGS) naturally undergoes reproductive maturation in a photoperiod-independent manner. In addition, males spontaneously activate their reproductive axis during hibernation, but the timing of reproduction is sensitive to external cues. We are using electron microscopy to examine, define, and measu...

Visinin-Like Protein-1 (Vsnl1) is a member of the EF-hand calcium sensor protein family that is expressed in the zona glomerulosa of the rat and human adrenal and upregulated in aldosterone-producing adenomas.We studied the expression pattern of Vsnl1 and co-localization with the CYP11B2 enzyme and the zona glomerulosa (ZG) marker Dlk1 (ZOG) using double and triple immunofluorescence in the adrenal of rats on a normal, high and low sodium diets. We also ...

Monitoring patients with NETs reveals a significant prevalence of gastrointestinal symptoms, often unrelated directly to the tumour1. Exocrine pancreatic insufficiency exemplifies a common treatable cause of gastrointestinal symptoms in NET patients undergoing therapy with somatostatin analogues. There is a paucity of data regarding this important issue which affects quality of life in NETs. We explored the value of faecal elastase (FE) as a marker of exocrine pancr...

Background: Prednisolone is used for glucocorticoid replacement therapy in Adrenal Insufficiency. Package inserts indicate that prednisolone should be administered with or after food as there is a belief that prednisolone causes stomach ulcers. We have investigated the impact of various fasted and non-fasted states on its pharmacokinetic profile.Method: A healthy volunteer provided three 4 mg prednisolone profiles. The first was a fasted reference curve....

Background: The cortisol circadian rhythm has an early morning peak with an increase before awakening, and a second lunchtime peak. Using a UPLC-MS/MS technique to measure prednisolone, the active metabolite of prednisone, we investigated the suitability of modified release (MR) prednisone (Lodotra) as a replacement therapy.Method: Blood samples were taken at fixed time points after the administration of MR-prednisone. Concentrations of the active metabo...

Disorders of sex development (DSD) are a collection of rare congenital conditions with diverse features and pathophysiology. Patients usually present at birth with atypical genitalia or with delayed puberty in adolescence. Biochemical and cytogenetic investigations may provide guidance on the underlying cause, however molecular genetic analysis is usually required to provide a definitive diagnosis and allows for personalised management of the patient. The current diagnostic se...