Endocrine Abstracts

Background: Patients with pheochromocytoma/paraganglioma (PPGL) often face difficulties in obtaining timely and accurate diagnosis, as well as in accessing experienced specialists. However, little is known about the experiences of patients in obtaining effective care.Methods: To address this gap and give voice to the patients, we invited potential participants, through social media, email, and the PheoPara Alliance (PPA) website, to complete a 20-min onl...

Estradiol (E2), produced by granulosa cells (GCs) of ovarian follicles, plays an essential role in folliculogenesis by controlling follicular development and selection. E2 actions are principally mediated by the two nuclear receptors, ERα and ERβ. These two receptors are differently expressed in GCs, with ERβ being predominant. After ligand binding and receptor dimerization, ERα and ERβ mainly regulate gene transcription through direct interaction with...

Background: Potentially fatal adrenal crises (AC) still occur in educated patients with adrenal insufficiency (AI). Identifying predisposing factors is necessary for prevention in this patient population.Objectives: Investigating clinical and biochemical fingerprints of increased susceptibility to AC.Material and methods: Our study population included 260 patients with chronic AI, classified as high and low risk according to the fr...

Pathogenic ARMC5 variants are the main genetic cause of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) explaining roughly 20% of index cases. These variants found both at germline and somatic level are mostly frameshift and nonsense leading to a loss of its function. ARMC5 acts then, as a tumor suppressor gene but little was initially known on its function. Using an RNAseq analysis on transient zebrafish models of Armc5 up- and d...

Secondary hormonal deficiency (SHD) in sellar masses (SM) is thought to be partly due to compression of the portal vessels by the enlarging tumour restricting the blood supply to the normal pituitary tissue. However, to date no study has looked at the patterns of SHD in various types of SM and assessed if SHD is related solely to the size of SM or is associated with the underlying pathology. We assessed 914 patients with SM enrolled in our comprehensive pituitary registry sinc...

Background: Klinefelter syndrome (KS), karyotype 47XXY, affects 1 in 650 males. Subjects develop primary gonadal failure requiring life-long testosterone replacement. Many different testosterone formulations are available and long-term monitoring is necessary to avoid secondary polycythaemia.Objective: To investigate the effect of testosterone formulations used in KS subjects and estimate frequency of association with secondary polycythaemia.<p class...

Objective: To describe the Carney Complex (CNC) manifestations presented by patients harboring the PRKAR1A mutation c.709(-7-2)del (one of the three hotspots) in a large cohort of patients.Methods: Multicenter retrospective study. Age at the diagnosis or at the screening of the different CNC manifestations is described by mean ± standard deviation.Results: Forty patients [12 index cases, 27 females, 46±15 years o...

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. Historically and age-appropriate hydrocortisone formulation has not been available. Adrenal crisis is associated with significant morbidity and mortality.Aims: To assess prescribing practice for oral hydrocortisone and sick day advise across the UK.Methods: Paediatric endocrinologists and parents[...

Introduction: Sirolimus, a mTOR (mechanistic Target of Rapamycin) inhibitor, is well known for its impact on glucides and lipids metabolism. These effects vary according to factors such as dose and treatment duration, species, cell types and environmental factors. In vitro and in vivo, sirolimus inhibits adipogenesis by decreasing adipocytes number and size, as well as pre-adipocytes differentiation, leading to subcutaneous and visceral fat mass decrease in m...

Background: Despite the widespread use of the 250-μg Cosyntropin test (ACTH test) for the diagnosis of adrenal insufficiency (AI), the effect of timing of the test on 30- vs. 60-min serum cortisol values remains unclear. Also, there is limited evidence comparing the value of performing both 30- and 60-min cortisol levels.Methods: We conducted a retrospective cohort study of all ACTH tests conducted at the Halifax Neuropituitary Program, Nova Scotia,...