Paolo Mulatero, Ute I Scholl, Carlos E Fardella, Evangelia Charmandari, Andrzej Januszewicz, Martin Reincke, Celso E Gomez-Sanchez, Michael Stowasser, Olaf M Dekkers
We describe herein the European Reference Network on Rare Endocrine Conditions (Endo-ERN)- clinical practice guideline on diagnosis and management of familial forms of hyperaldosteronism. The guideline panel consisted of 10 experts in primary aldosteronism, endocrine hypertension, pediatric endocrinology and cardiology as well as a methodologist. A systematic literature search was conducted, and because of the rarity of the condition, most recommendations were based on expert opinion and small patient series...
April 4, 2024: European Journal of Endocrinology
Lorenzo Tucci, Flaminia Fanelli, Ilaria Improta, Valentina Bissi, Claudia Lena, Greta Galante, Marco Mezzullo, Matteo Magagnoli, Anna Bianca Lalumera, Giacomo Colombin, Kimberly Coscia, Laura Rotolo, Valentina Vicennati, Uberto Pagotto, Guido Di Dalmazi
BACKGROUND: Various glucocorticoid replacement treatments (GRT) are available for adrenal insufficiency (AI). However, their effectiveness in restoring glucocorticoid rhythm and exposure lacks adequate biochemical markers. We described the diurnal salivary cortisol (SalF) and cortisone (SalE) rhythm among different GRTs and analysed the associations between saliva-derived parameters and life quality questionnaires. METHODS: Control subjects (CS, n=28) and AI patients receiving hydrocortisone (HC, n=9), cortisone acetate (CA, n=23), dual-release hydrocortisone once (DRHC-od, n=10) and twice a day (DRHC-td, n=6) collected 9 saliva samples from 07:00 to 23:00...
April 4, 2024: European Journal of Endocrinology
Claudia Saglia, Francesca Arruga, Caterina Scolari, Silvia Kalantari, Serena Albanese, Valeria Bracciamà, Angelo Corso Faini, Giulia Brach Del Prever, Maria Luca, Carmelo Romeo, Fiorenza Mioli, Martina Migliorero, Daniele Tessaris, Diana Carli, Antonio Amoroso, Tiziana Vaisitti, Luisa De Sanctis, Silvia Deaglio
OBJECTIVE: Calcium sensing receptor gene (CASR) encodes a G protein-coupled receptor crucial for calcium homeostasis. Gain-of-function CASR variants result in hypocalcemia, while loss-of-function variants lead to hypercalcemia. This study aims to assess the functional consequences of the novel nonsense CASR variant c.2897_2898insCTGA, p.(Gln967*) (Q967*) identified in adolescent patient with chronic hypocalcemia, a phenotype expected for a gain-of-function variants. DESIGN AND METHODS: To functionally characterize the Q967* mutant receptor, both WT and mutant CASR were transiently transfected into HEK293T cells and Calcium sensing receptor (CaSR) protein expression and function were comparatively evaluated using multiple read-outs...
April 2, 2024: European Journal of Endocrinology
Inge A L P van Beijsterveldt, Bertrand D van Zelst, Demi J Dorrepaal, Sjoerd A A van den Berg, Anita C S Hokken-Koelega
BACKGROUND AND AIMS: Poly- and perfluoroalkyl substances(PFAS) are non-degradable, man-made-chemicals. They accumulate in humans with potential harmful effects, especially in susceptible periods of human development, such as the first months of life. We found that, in our cohort, exclusively breastfed infants(EBF) had 3-times higher PFAS-plasma-levels, compared to exclusively formula-fed infants(EFF) at age 3 months. Thus, PFAS could potentially reduce breastfeeding's health benefits...
March 30, 2024: European Journal of Endocrinology
Maria Riedmeier, Sonir R R Antonini, Silvia Brandalise, Tatiana El Jaick B Costa, Camila M Daiggi, Bonald C de Figueiredo, Ronald R de Krijger, Karla Emília De Sá Rodrigues, Cheri Deal, Jaydira Del Rivero, Gernot Engstler, Martin Fassnacht, Gabriela C Fernandes Luiz Canali, Carlos A Fernandes Molina, Elmas Nazli Gonc, Melis Gültekin, Harm R Haak, Tulay Guran, Emile J Hendriks A, Jan Idkowiak, Michaela Kuhlen, David Malkin, Jagdish Prasad Meena, Christina Pamporaki, Emilia Pinto, Soraya Puglisi, Raul C Ribeiro, Lester D R Thompson, Bilgehan Yalcin, Max Van Noesel, Verena Wiegering
OBJECTIVE: Mitotane is an important cornerstone in the treatment of pediatric adrenal cortical tumors (pACC), but experience with the drug in the pediatric age group is still limited and current practice is not guided by robust evidence. Therefore, we have compiled international consensus statements from pACC experts on mitotane indications, therapy, and management of adverse effects. METHODS: A Delphi method with three rounds of questionnaires within the pACC expert consortium of the international network groups ENSAT-PACT and ICPACT was used to create 21 final consensus statements...
March 29, 2024: European Journal of Endocrinology
Cihan Atila, Julia Beck, Julie Refardt, Zoran Erlic, Juliana B Drummond, Clara O Sailer, Matthias E Liechti, Beatriz Santana Soares Rocha, Felix Beuschlein, Bettina Winzeler, Mirjam Christ-Crain
OBJECTIVE: Distinguishing arginine vasopressin deficiency (AVP-D; central diabetes insipidus) from primary polydipsia (PP), commonly referred to as psychogenic polydipsia, is challenging. Psychopathologic findings, commonly used for PP diagnosis in clinical practice, are rarely evaluated in AVP-D patients, and no comparative data between the two conditions currently exist. DESIGN: Data from two studies involving 82 participants (39 AVP-D, 28 PP, and 15 healthy controls [HC])...
March 29, 2024: European Journal of Endocrinology
Andreas H Lange, Miriam G Pedersen, Anne-Marie Ellegaard, Henriette H Nerild, Andreas Brønden, David P Sonne, Filip K Knop
Cholelithiasis and cholecystitis affect individuals of all ages and are often treated by surgical removal of the gallbladder (cholecystectomy), which is considered a safe, low-risk procedure. Nevertheless, recent findings show that bile and its regulated storage and excretion may have important metabolic effects and that cholecystectomy is associated with several metabolic diseases postoperatively. Bile acids have long been known as emulsifiers essential to the assimilation of lipids and absorption of lipid-soluble vitamins, but more recently, they have also been reported to act as metabolic signaling agents...
March 29, 2024: European Journal of Endocrinology
Ida M Gether, Emilie Bahne, Henriette H Nerild, Jens F Rehfeld, Bolette Hartmann, Jens J Holst, Tina Vilsbøll, David P Sonne, Filip K Knop
OBJECTIVE: Colesevelam, a bile acid sequestrant approved for the treatment of hypercholesterolaemia, improves glycaemic control in type 2 diabetes. We hypothesised that single-dose colesevelam increases postprandial GLP-1 secretion, thus, reducing postprandial glucose excursions in individuals with type 2 diabetes. Further, we explored the effects of single-dose colesevelam on ultrasonography-assessed postprandial gallbladder motility, paracetamol absorption (proxy for gastric emptying) and circulating factors known to affect gallbladder motility...
March 29, 2024: European Journal of Endocrinology
Olaf M Dekkers, Kristina Laugesen, Rolf H H Groenwold
Directed acyclic graphs (DAGs), or causal diagrams, are graphical representations of causal structures that can be used in medical research to understand and illustrate potential bias, including bias arising from confounding, selection, and misclassification. Further, they provide guidance for researchers about how to address a potential bias.
March 26, 2024: European Journal of Endocrinology
Linus Haberbosch, James MacFarlane, Olympia Koulouri, Daniel Gillett, Andrew S Powlson, Sue Oddy, David J Halsall, Kevin A Huynh, Jonathan Jones, Heok K Cheow, Joachim Spranger, Knut Mai, Christian Strasburger, Richard J Mannion, Mark Gurnell
BACKGROUND: L-[methyl-11C]-methionine-positron emission tomography (Met-PET) is a potentially important imaging adjunct in the diagnostic workup of pituitary adenomas, including somatotroph tumours. Met-PET can identify residual or occult disease and make definitive therapies accessible to a subgroup of patients who would otherwise require lifelong medical therapy. However, existing data on its use are still limited to small case series. Here, we report the largest single centre experience (N=61) in acromegaly...
March 14, 2024: European Journal of Endocrinology
Tomoko Yoshida, Tyler Alexander, Mengqi Xing, Sedigheh Mirzaei S, AnnaLynn M Williams, Margaret Lubas, Tara M Brinkman, Wassim Chemaitilly, Leslie L Robison, Melissa M Hudson, Kevin R Krull, Angela Delaney
OBJECTIVE: Childhood cancer survivors are at risk for hypogonadism. Impact of hypogonadism on neurocognitive impairment and emotional distress in the non-cancer population has been shown, however, the relationship among childhood cancer survivor population is unknown. We aimed to evaluate the contribution of hypogonadism to neurocognitive impairment and emotional distress among survivors. DESIGN: Cross-sectional study using retrospective cohort. METHODS: 3628 survivors who completed standard neurocognitive tests (six domains: processing speed, memory, executive function, attention, academics, global cognition) and self-reported emotional distress were included in our study...
March 12, 2024: European Journal of Endocrinology
Andreas Machens, Henning Dralle
BACKGROUND: Homozygous mutations, two identical gene versions (alleles), one from each biological parent, are exceptional. Clinical descriptions of affected families, comprising few carriers only, are scattered throughout the literature, hindering evidence generation. METHODS: Included in this literature analysis were 5 RET families with ≥1 homozygous carrier and ≥3 heterozygous carriers per family. RESULTS: In consanguineous families with first-degree cousins, homozygotes presented with node-positive medullary thyroid cancer and pheochromocytoma in their mid-teens, whereas heterozygotes presented in their end-thirties and early forties...
March 11, 2024: European Journal of Endocrinology
Juliane Lippert, Gabrielle Smith, Silke Appenzeller, Laura-Sophie Landwehr, Alessandro Prete, Sonja Steinhauer, Miriam Asia, Hanna Urlaub, Yasir S Elhassan, Stefan Kircher, Wiebke Arlt, Martin Fassnacht, Barbara Altieri, Cristina L Ronchi
Adrenocortical carcinoma (ACC) is a rare aggressive cancer with heterogeneous behaviour. Disease surveillance relies on frequent imaging, which comes with significant radiation exposure. The aim of the study was to investigate the role of circulating cell-free DNA (ccfDNA)-related biomarkers (BM) for prognostication and monitoring of ACC. We investigated 34 patients with ACC and 23 healthy subjects (HS) as controls. ccfDNA was extracted by commercial kits and ccfDNA concentrations quantified by fluorimeter (BM1)...
March 7, 2024: European Journal of Endocrinology
Blandine Gatta-Cherifi, Kamel Mohammedi, Tanguy Cariou, Christine Poitou, Philippe Touraine, Gerald Raverot, Thierry Brue, Philippe Chanson, Frédéric Illouz, Solange Grunenwald, Olivier Chabre, Emmanuel Sonnet, Thomas Cuny, Jerôme Bertherat, Sébastien Czernichow, Eric Frison, Antoine Tabarin
OBJECTIVE: Our objective was to study the efficacy of GLP-1 analogs compared to placebo in adults with craniopharyngioma-related obesity (CRO). DESIGN: We conducted a double-blind multicenter superiority randomized clinical trial in eleven French University hospital Centers. METHODS: After a 4-week run-in period, 40 adults with CRO (BMI > 30 kg/m²) without sign of recurrence in the past year patients were randomized to receive exenatide (n=20) or placebo (n=20) injected subcutaneously twice a day...
March 7, 2024: European Journal of Endocrinology
Anna Bogusławska, Magdalena Godlewska, Alicja Hubalewska-Dydejczyk, Márta Korbonits, Jerzy Starzyk, Aleksandra Gilis-Januszewska
OBJECTIVES: Increased height in patients with acromegaly could be a manifestation of growth hormone (GH) excess before epiphysis closure. The aim of this study was to evaluate the relationship between the height of adult patients with GH excess related to mid-parental height (MPH) and population mean and to find whether taller patients with acromegaly come from tall families. METHODS: This is a single-centre, observational study involving 135 consecutive patients with acromegaly diagnosed as adults and no family history of GH excess...
February 23, 2024: European Journal of Endocrinology
Pablo Fernández-García, Siri D Taxerås, Marjorie Reyes-Farias, Lorena González, Andrea Soria-Gondek, Silvia Pellitero, Jordi Tarascó, Pau Moreno, Lauro Sumoy, Jacqueline M Stephens, Lindsey G Yoo, María Galán, Adriana Izquierdo, Gema Medina-Gómez, Laura Herrero, Patricia Corrales, Francesc Villarroya, Rubén Cereijo, David Sánchez-Infantes
OBJECTIVE: T-lymphocytes from visceral and subcutaneous white adipose tissue (vWAT and sWAT, respectively) can have opposing roles in the systemic metabolic changes associated with obesity. However, few studies have focused on this subject. Claudin-1 (CLDN1) is a protein involved canonically in Tight Junctions (TJs) and tissue paracellular permeability.We evaluated T lymphocytes gene expression in vWAT and sWAT and in the whole adipose depots in human samples. METHODS: A Clariom D-based transcriptomics analysis was performed on T lymphocytes magnetically separated from vWAT and sWAT from patients with obesity (Cohort 1; N = 11)...
February 20, 2024: European Journal of Endocrinology
Fanny Chasseloup, Daniela Regazzo, Lucie Tosca, Alexis Proust, Emmanuelle Kuhn, Mirella Hage, Christel Jublanc, Karima Mokhtari, Mattia Dalle Nogare, Serena Avallone, Filippo Ceccato, Gerard Tachdjian, Sylvie Salenave, Jacques Young, Stephan Gaillard, Fabrice Parker, Anne-Laure Boch, Philippe Chanson, Jerome Bouligand, Gianluca Occhi, Peter Kamenicky
INTRODUCTION: Paradoxical increase of GH following oral glucose load has been described in ∼30% of patients with acromegaly and has been related to the ectopic expression of the glucose-dependent insulinotropic polypeptide (GIP) receptor (GIPR) in somatotropinomas. Recently, we identified germline pathogenic variants and somatic loss of heterozygosity of lysine demethylase 1A (KDM1A) in patients with GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome...
February 8, 2024: European Journal of Endocrinology
Rolf H H Groenwold, Olaf M Dekkers
For many statistical methods that are commonly used in medical research, it is assumed that observations are independent. However, when this assumption is violated, alternative methods may be needed. In this paper, we describe why an analysis that ignores the dependencies within the data may provide biased results and outline possible alternatives. This paper aims to create awareness among researchers, readers, and reviewers for this possible source of bias in medical research.
February 1, 2024: European Journal of Endocrinology
Agustina Giuliodori, Eduardo Soudah, Jorge Malouf, Luciana Martel-Duguech, Vincent Amodru, Joan Gil, Joaquín A Hernández, Manel Puig Domingo, Susan M Webb, Elena Valassi
BACKGROUND: Hypercortisolism in Cushing's syndrome (CS) is associated with bone loss, skeletal fragility and altered bone quality. No studies evaluated bone geometric and strain-stress values in CS patients after remission thus far. PATIENTS AND METHODS: Thirty-two women with CS in remission [mean age (±SD) 51 ± 11; BMI, 27 ± 4 Kg/m2; mean time of remission, 120 ± 90 months] and 32 age-, BMI- and gonadal status-matched female controls...
January 23, 2024: European Journal of Endocrinology
Barbara Altieri, Otilia Kimpel, Felix Megerle, Mario Detomas, Irina Chifu, Carmina Teresa Fuss, Marcus Quinkler, Matthias Kroiss, Martin Fassnacht
OBJECTIVE: Mitotane is the standard therapy of adrenocortical carcinoma (ACC) due to its relative selectivity of its cytotoxic effects towards adrenocortical cells. Therefore, it virtually always leads to adrenal insufficiency. Frequency and characteristics of hypothalamic-pituitary-adrenal (HPA) axis recovery after discontinuation are ill-defined. METHODS: Retrospective study of patients with ACC adjuvantly treated with mitotane for ≥12 months who were disease-free at mitotane stop, and had a minimum follow-up ≥1 year...
January 19, 2024: European Journal of Endocrinology
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