European Journal of Endocrinology

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OBJECTIVE: Mild autonomous cortisol secretion (MACS) has been associated with a higher prevalence of osteoporosis, although most data rely on single-center studies with limited sample size. We aimed to assess the prevalence of fragility fractures and contributing factors in a large cohort of patients with adrenal incidentalomas. DESIGN AND METHODS: Medical records of 1023 patients with adrenal incidentalomas from 1990 to 2019 were reviewed, and 735 patients were selected...

OBJECTIVE: Pancreatic neuroendocrine tumors (panNETs) are the leading cause of death in patients with multiple endocrine neoplasia type 1 (MEN1). The role of somatostatin receptor positron emission tomography (SSTR PET/CT) in MEN1 has not been established. The aim was to assess pancreatic imaging in MEN1 in a real-life setting. DESIGN AND METHODS: Fifty-eight patients with MEN1 (median age 40 (range 16-72) years) underwent SSTR PET/CT imaging; either as a screening tool regardless of disease stage (n = 47) or to further characterize known panNETs (n = 11)...

While most benign lesions of the adrenal glands represent either an adrenocortical adenoma or a myelolipoma, the advent and frequent use of high-resolution radiological investigations have led to relatively increased incidental discovery of rare adrenal lesions, specifically benign adrenal cysts, adrenal ganglioneuromas, adrenal schwannomas, adrenal hemorrhage, and adrenal calcifications. Radiological characteristics of the different rare benign adrenal lesions could vary from distinct to indeterminate. Though typically nonfunctional, these rare lesions require evaluation for adrenal hormone excess, as they may phenotypically appear similar to pheochromocytoma or adrenocortical carcinoma and could sometimes be associated with or conceal an underlying functional adrenal tumor...

OBJECTIVE: Growth hormone insensitivity (GHI) encompasses growth restriction, normal/elevated growth hormone (GH), and low insulin-like growth factor I (IGF1). 'Non-classical' GHI is poorly characterised and is rarely caused by heterozygous dominant-negative (DN) variants located in the intracellular or transmembrane domains of the GH receptor (GHR). We sought to determine the molecular mechanisms underpinning the growth restriction in two GHI cases. METHODS AND DESIGN: A custom-made genetic investigative pipeline was exploited to identify the genetic cause of growth restriction in patients with GHI...

Successful pancreas or islet transplantation is currently the only cure for type-1 diabetes mellitus. Since the first pancreas transplant in 1966, there have been various refinements of surgical technique along with improved immunosuppressive regimens, resulting in significantly improved outcomes, with contemporary research into graft monitoring and newer biomarkers, potentially lengthening graft survival rates further. Patients with insulin-dependent diabetes mellitus who are eligible for pancreas or islet transplantation represent a select group, the tip of the iceberg for a significant global diabetes disease burden...

The aim of this study was to describe the course of puberty and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Finnish APECED cohort followed 1970-2020. Anthropometry, testicular volumes, and FSH, LH, and testosterone concentrations were analysed retrospectively. Forty-three males were followed until the median age of 42.5 years (range, 16.2-74.8). All subjects fulfilled the clinical criteria of APECED. The median age at the onset of spontaneous puberty was 13...

CONTEXT: Active acromegaly is characterized by lipolysis-induced insulin resistance, which suggests adipose tissue (AT) as a primary driver of metabolic aberrations. OBJECTIVE: To study the gene expression landscape in AT in patients with acromegaly before and after disease control in order to understand the changes and to identify disease-specific biomarkers. METHODS: RNA sequencing was performed on paired subcutaneous adipose tissue (SAT) biopsies from six patients with acromegaly at time of diagnosis and after curative surgery...

Obesity and its comorbidities are longstanding, challenging global health problems. Lack of exercise, overnutrition and especially the consumption of fat-rich foods are some of the most important factors leading to an increase in prevalence in modern society. The pathophysiology of obesity as a metabolic inflammatory disease has moved into focus since new therapeutic approaches are required. The hypothalamus, a brain area responsible for energy homeostasis, has recently received special attention in this regard...

OBJECTIVE: Current guidelines recommend treating symptomatic hyponatremia with rapid bolus-wise infusion of fixed volumes hypertonic saline regardless of body weight. We hypothesize that this approach is associated with overcorrection and undercorrection in patients with low and high body weight. DESIGN: Single-center, retrospective cohort study. METHODS: Data were collected on patients treated with ≥ 1 bolus 100 or 150 mL 3% NaCl for symptomatic hyponatremia between 2017-2021...

Osteoporosis is a common consequence of long-term oral glucocorticoid therapy and the resulting fractures cause significant morbidity. Bone loss occurs rapidly after initiation of glucocorticoid therapy; the accompanying increase in risk of fracture is dose-dependent and occurs within a few months of starting therapy. The adverse effects of glucocorticoids on bone are mediated by inhibition of bone formation accompanied by an early but transient increase in bone resorption, due both to direct and indirect effects on bone remodelling...

We report a unique case of a 44-year-old man with paraneoplastic hyperparathyroidism due to an oncocytic adrenocortical carcinoma (stage pT3N0R0M0, ENSAT 2 with a 4% Ki-67). Paraneoplastic hyperparathyroidism was associated with mild ACTH-independent hypercortisolism and increased estradiol secretion responsible for gynecomastia and hypogonadism. Biological investigations performed in blood samples from peripheral and adrenal veins revealed that the tumor secreted PTH and estradiol. Ectopic PTH secretion was confirmed by abnormally high expression of PTH mRNA and clusters of PTH immunoreactive cells in the tumor tissue...

OBJECTIVE: Craniopharyngiomas (CP) are rare malformational tumors. Clinical presentation and outcome of pediatric patients with CP with specific regard to age at diagnosis is not clear. The aim of this cohort study was to determine clinical presentation and outcome in these patients diagnosed at different ages at diagnosis. DESIGN: Seven hundred and nine patients diagnosed with CP were recruited 1999-2021 in HIT-Endo, KRANIOPHARYNGEOM 2000/2007/Registry 2019 and prospectively observed...

Thirty years ago, we identified that cortisol secretion in some patients with unilateral adenoma or primary bilateral macronodular adrenal hyperplasia (PBMAH) was stimulated by food intake; this was secondary to the abnormal adrenocortical responsiveness to physiological post prandial increase in glucose-dependent insulinotropic peptide (GIP). This resulted from the ectopic expression of non-mutated GIP receptor in the pathological adrenal tissues of those patients. Although ectopic GIPR was confirmed in a relatively limited number of cases to date, its elucidation lead to the identification of a wide diversity of aberrant G-protein-coupled receptors regulating steroidogenesis and cell proliferation in a high proportion of patients with PBMAH or cortisol-secreting adenomas...

OBJECTIVE: Trauma-induced steroid changes have been studied post-hospital admission, resulting in a lack of understanding of the speed and extent of the immediate endocrine response to injury. The Golden Hour Study was designed to capture the ultra-acute response to traumatic injury. DESIGN: An observational cohort study including adult male trauma patients <60 years, with blood samples drawn <1 hour of major trauma by pre-hospital emergency responders. METHODS: We recruited 31 adult male trauma patients (mean age 28 (range 19-59) years) with a mean injury severity score of 16 (IQR 10-21)...

OBJECTIVE: The adipogenic PPARG-encoded PPARγ nuclear receptor also display essential placental functions. We evaluated metabolic, reproductive and perinatal features of patients with PPARG-related lipodystrophy. METHODS: Current and retrospective data were collected in patients referred to a National Rare Diseases Reference Centre. RESULTS: 26 patients from 15 unrelated families were studied (18 women, median age 43 years). They carried monoallelic PPARG variants except a homozygous patient with congenital generalized lipodystrophy...

OBJECTIVE: Indeterminate thyroid nodules (ITN) are common and often lead to (sometimes unnecessary) diagnostic surgery. We aimed to evaluate the performance of two machine learning methods (ML), based on routinely available features to predict the risk of malignancy (RM) of ITN. DESIGN: Multicentric diagnostic retrospective cohort study conducted between 2010 and 2020. METHODS: Adult patients who underwent surgery for at least one Bethesda III-V thyroid nodule (TN) with fully available medical records were included...

OBJECTIVE: One of the main medical treatment options for monosymptomatic nocturnal enuresis (MNE) is the vasopressin analogue desmopressin. But not all children respond to desmopressin treatment, and no reliable treatment predictor has yet been established. We hypothesize that plasma copeptin, a surrogate marker for vasopressin, can be used to predict treatment response to desmopressin in children with monosymptomatic nocturnal enuresis. DESIGN/METHODS: In this prospective observational study, we included 28 children with MNE...

OBJECTIVE: The diagnosis of premature ovarian insufficiency (POI) is a traumatic event for many patients that involves poor fertility prognosis. After such diagnosis spontaneous pregnancies are rare. The alternatives for building a family are oocyte donation, embryo donation and adoption. However, we have few information on how many women with POI finally built a family after the diagnosis and which alternative they chose. DESIGN: We performed a cross-sectional, descriptive study...

BACKGROUND: The impact of non-diabetic hyperglycaemia and insulin resistance on infection-related mortality risk remains unknown. We investigated the association of glycaemic status and insulin resistance with infection-related mortality in individuals with and without diabetes. DESIGN: Cohort study based on Kangbuk Samsung Health Study and national death records. METHODS: 666,888 Korean adults who underwent fasting blood measurements including glucose, glycated hemoglobin (HbA1c), and insulin during health screening examinations were followed for up to 15...