Article
Endocrinology & Metabolism
Idoia Martinez de LaPiscina, Nancy Portillo Najera, Itxaso Rica, Sonia Gaztambide, Susan M. Webb, Alicia Santos, Maria Dolores Moure, Miguel Paja Fano, Maria Isabel Hernandez, Maria Jesus Chueca-Guindelain, Laura Cristina Hernandez-Ramirez, Alfonso Soto, Nuria Valdes, Luis Castano
Summary: Genetic screening in young patients with pituitary adenomas revealed disease-causing germline variants, particularly in those aged between 0-19 years. Patients with genetic variants were younger at diagnosis and had larger tumour size. Despite incomplete disease penetrance observed, screening for AIP and MEN1 variants in young patients and relatives is clinically valuable.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Amanda Seabrook, Ayanthi Wijewardene, Sunita De Sousa, Tang Wong, Nisa Sheriff, Anthony J. Gill, Rakesh Iyer, Michael Field, Catherine Luxford, Roderick Clifton-Bligh, Ann McCormack, Katherine Tucker
Summary: Germline CDKN1B pathogenic variants cause MEN4 syndrome, and the study of these cases reveals the heterogeneity of this syndrome, ranging from isolated primary hyperparathyroidism to comprehensive endocrine manifestations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Endocrinology & Metabolism
Elisabetta Lavezzi, Alessandro Brunetti, Valeria Smiroldo, Gennaro Nappo, Vittorio Pedicini, Eleonora Vitali, Giampaolo Trivellin, Gherardo Mazziotti, Andrea Lania
Summary: This article presents two cases of MEN4 and provides some indications for the management of these patients through a review of the current literature. According to the literature, hyperparathyroidism is the most common clinical feature of MEN4, followed by pituitary adenoma and neuroendocrine tumors. However, MEN4 appears to be a variant of MEN with milder clinical features and later onset.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
I Mazarico-Altisent, I Capel, N. Baena, M. R. Bella-Cueto, S. Barcons, X. Guirao, L. Albert, A. Cano, R. Pareja, A. Caixas, M. Rigla
Summary: New germline mutations in CDKIs have been identified in patients with primary hyperparathyroidism (PHPT), highlighting the importance of including CDKIs in genetic testing for PHPT.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
Malgorzata Trofimiuk-Muldner, Bartosz Domagala, Grzegorz Sokolowski, Anna Skalniak, Alicja Hubalewska-Dydejczyk
Summary: This study examined the frequency and characteristics of AIP gene mutations in Polish patients with apparently sporadic pituitary macroadenomas. The results showed that 5 out of 131 patients carried AIP gene mutations. However, patients with AIP gene mutations did not differ significantly from other patients in terms of age at diagnosis, tumor diameter, gender distribution, and tumor secretion frequency.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Carolina Chaves, Tiago Nunes da Silva, Bernardo Dias Pereira, Joao Anselmo, Isabel Claro, Branca M. Cavaco, Ana Saramago, Valeriano Leite
Summary: MEN1 is a familial syndrome caused by disruption of the MENIN tumor suppressor protein, leading to challenges in management due to its effects on various endocrine tissues and predisposition to tumors. This case presented a patient with multiple endocrine and autoimmune disorders, underwent surgical interventions and long-term familial genetic screening, resulting in stable outcomes during a 24-year follow-up period. The interplay between MENIN and the immune system highlighted in this case may have implications for future targeted surveillance and treatment of MEN1 patients.
Article
Surgery
Carolina R. C. Pieterman, Samuel M. Hyde, Si-Yuan Wu, Jace P. Landry, Yi-Ju Chiang, Ioannis Christakis, Elizabeth G. Grubbs, Sarah B. Fisher, Paul H. Graham, Steven G. Waguespack, Nancy D. Perrier
Summary: Genotype-negative patients with clinical multiple endocrine neoplasia type 1 have better disease-specific survival and a different clinical course compared to genotype-positive patients.
Article
Endocrinology & Metabolism
Daniel J. Cuthbertson, Jorge Barriuso, Angela Lamarca, Prakash Manoharan, Thomas Westwood, Matthew Jaffa, Stephen W. Fenwick, Christina Nuttall, Fiona Lalloo, Andreas Prachalias, Michail Pizanias, Hulya Wieshmann, Mairead G. McNamara, Richard Hubner, Raj Srirajaskanthan, Gillian Vivian, John Ramage, Martin O. Weickert, D. Mark Pritchard, Sobhan Vinjamuri, Juan Valle, Vincent S. Yip
Summary: This study evaluated the role of (68)Gallium (Ga-68)-DOTA PET/CT in managing patients with panNETs, showing that the imaging findings provided additional information in 54% of patients and influenced management in 39% of cases. The PET/CT scan more accurately stages and guides treatment in patients with sporadic/familial panNETs.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Oncology
Julia Gasior, Rachel R. Kelz, Giorgos C. Karakousis, Douglas L. Fraker, Heather Wachtel
Summary: This study aimed to investigate whether young adult patients have a high rate of multigland disease (MGD) and whether routine bilateral neck exploration is necessary. The results showed that in addition to a positive family history, age alone was not an independent risk factor for MGD.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Oncology
Hallbera Gudmundsdottir, Rondell P. Graham, Mohamad B. Sonbol, Rory L. Smoot, Mark J. Truty, Michael L. Kendrick, David M. Nagorney, Elizabeth B. Habermann, Thorvardur R. Halfdanarson, Sean P. Cleary
Summary: The main objective of this study was to investigate the incidence of multifocality in sporadic pNETs and any associated effect on recurrence risk and survival. The results showed that multifocal sporadic pNETs are rare and multifocality is not associated with worse survival or increased recurrence risk. Patients with multifocal sporadic pNETs can likely be safely managed with a combination of resection and observation as indicated for each tumor.
JOURNAL OF SURGICAL ONCOLOGY
(2021)
Article
Cell Biology
Francesca Marini, Francesca Giusti, Federica Cioppi, Davide Maraghelli, Tiziana Cavalli, Francesco Tonelli, Maria Luisa Brandi
Summary: This study evaluated the effect of parathyroidectomy on bone metabolism and bone mass in patients with MEN1 PHPT and sPHPT, confirming the efficacy of surgery in restoring normal hormone levels and improving bone mass. In MEN1 patients, surgery is strongly recommended to prevent early-onset bone mass loss in the presence of increased PTH and hypercalcemia.
Article
Endocrinology & Metabolism
L. M. Gaspar, C. I. Goncalves, C. Saraiva, L. Cortez, C. Amaral, E. Nobre, M. C. Lemos
Summary: This study aimed to determine the frequency of AIP germline mutations in patients with young-onset sporadic pituitary macroadenomas. Heterozygous rare sequence variants in AIP were identified in 8.3% of the patients, but only 1.8% had pathogenic or likely pathogenic variants. Four novel AIP mutations were identified in patients with GH-secreting adenomas diagnosed at a young age.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Review
Endocrinology & Metabolism
Irina Bancos, Elizabeth Atkinson, Charis Eng, William F. Young, Hartmut P. H. Neumann
Summary: This study analyzed patients with PPGL and pregnancy between 1980 and 2019, and found that unrecognized and untreated PPGL is associated with a significantly higher risk of maternal or fetal complications. Appropriate case detection and counseling for premenopausal women at risk for PPGL may help prevent adverse pregnancy-related outcomes.
LANCET DIABETES & ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Gurjeet Kaur, Sanjay Kumar Bhadada, Mithun Santra, Rimesh Pal, Phulen Sarma, Naresh Sachdeva, Vandana Dhiman, Divya Dahiya, Uma Nahar Saikia, Anuradha Chakraborty, Ashwani Sood, Mahesh Prakash, Arunanshu Behera, Sudhaker D. Rao
Summary: This study investigates the role of MEN1 mutations in sporadic PHPT in Indian patients and identifies certain MEN1 variants associated with disease recurrence and the detection of other endocrine tumors. The findings suggest that early screening for MEN1-related tumors and disease recurrence can be prompted by detecting MEN1 variations, especially those with disease-specific potential.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Andreas Machens, Kerstin Lorenz, Frank Weber, Henning Dralle
Summary: This study aimed to determine the clinical penetrance and expression of RET missense mutations associated with MEN2A in an age-dependent manner based on parental inheritance. The results showed that offspring who inherited the trait from the father developed tumors at a significantly younger age. Parental inheritance was consistently associated with MEN2A-associated tumors, highlighting the importance of considering parental inheritance in screening and early detection of these tumors.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Chiara Sabbadin, Francesca Beggiao, Carlotta Keiko Vedolin, Gloria Orlando, Eugenio Ragazzi, Filippo Ceccato, Mattia Barbot, Luciana Bordin, Gabriella Dona, Alessandra Andrisani, Anna Belloni Fortina, Carla Scaroni, Decio Armanini
Summary: This study demonstrates that spironolactone is a safe and effective treatment for hyperandrogenic skin disorders, particularly in patients with polycystic ovary syndrome. The medication can provide long-lasting improvement in symptoms, even after discontinuation for several months.
ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS
(2023)
Article
Endocrinology & Metabolism
F. Ceccato, M. Torchio, I Tizianel, M. Peleg Falb, M. Barbot, C. Sabbadin, C. Betterle, C. Scaroni
Summary: The study aimed to explore the dose of FC treatment and its relationship with glucocorticoid therapy, sodium, potassium, renin, and clinical parameters. The study found that FC dose was positively correlated with sodium and negatively correlated with potassium and renin. FC dose was overall reduced during long-term follow-up, especially in patients with autoimmune PAI. Renin and electrolytes can be used to evaluate and adjust the FC dose.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
Mitsuhide Naruse, Masanori Murakami, Takuyuki Katabami, Tomaz Kocjan, Mirko Parasiliti-Caprino, Marcus Quinkler, Matthieu St-Jean, Sam O'Toole, Filippo Ceccato, Ivana Kraljevic, Darko Kastelan, Mika Tsuiki, Jaap Deinum, Edelmiro Menendez Torre, Troy Puar, Athina Markou, George Piaditis, Kate Laycock, Norio Wada, Marianne Aardal Grytaas, Hiroki Kobayashi, Akiyo Tanabe, Chin Voon Tong, Nuria Valdes Gallego, Sven Gruber, Felix Beuschlein, Lydia Kuerzinger, Norlela Sukor, Elena A. B. Aisha Azizan, Oskar Ragnarsson, Michiel F. Nijhoff, Giuseppe Maiolino, Guido Di Dalmazi, Valentina Kalugina, Andre Lacroix, Raluca Maria Furnica, Tomoko Suzuki
Summary: This study investigated the diversity of approaches utilized for each diagnostic step in different expert centers regarding primary aldosteronism (PA). The results showed significant variations in blood sampling conditions, assay methods, screening and confirmatory tests among centers. This diversity may lead to inconsistent diagnosis of PA and limit comparison of evidence between centers. Standardization of the diagnostic process and revisiting the concept of mild PA are necessary.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Filippo Ceccato, Mattia Barbot, Alessandro Mondin, Marco Boscaro, Maria Fleseriu, Carla Scaroni
Summary: This study aimed to evaluate the diagnostic accuracy of the CRH test, desmopressin test, and HDDST for the differential diagnosis of CD and EAS. The CRH test showed the highest sensitivity for detecting CD and the highest specificity for detecting EAS, while the diagnostic accuracy of HDDST and desmopressin test was lower.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Sport Sciences
Marcos D. Martinez-Zamora, Pedro L. Valenzuela, Ines Esteban Diez, Oscar Martinez-de-Quel
Summary: Evidence suggests that preterm birth is associated with impaired physical fitness. This study aimed to compare the physical fitness of preterm and full-term children. The results showed that preterm children had poorer physical fitness, including handgrip strength, lower-limb muscle strength, agility, cardiorespiratory fitness, and flexibility, compared to full-term children. The level of prematurity was inversely associated with physical fitness, with very preterm children having the poorest fitness levels.
EUROPEAN JOURNAL OF SPORT SCIENCE
(2023)
Review
Biochemistry & Molecular Biology
Giacomo Voltan, Pierluigi Mazzeo, Daniela Regazzo, Carla Scaroni, Filippo Ceccato
Summary: Acromegaly is a rare disease with systemic complications and incomplete hormonal control in some cases. Estrogens were previously used to treat acromegaly, but abandoned due to side effects. Recent studies have re-evaluated the role of estrogens and SERMs in acromegaly treatment, focusing on the GH/IGF1 axis and potential implications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Soraya Puglisi, Anna Calabrese, Francesco Ferrau, Maria Antonia Violi, Marta Lagana, Salvatore Grisanti, Filippo Ceccato, Carla Scaroni, Guido Di Dalmazi, Antonio Stigliano, Barbara Altieri, Letizia Canu, Paola Loli, Rosario Pivonello, Emanuela Arvat, Valentina Morelli, Paola Perotti, Vittoria Basile, Paola Berchialla, Sara Urru, Cristian Fiori, Francesco Porpiglia, Alfredo Berruti, Anna Pia, Giuseppe Reimondo, Salvatore Cannavo, Massimo Terzolo
Summary: This study retrospectively analyzed 512 patients with ACC diagnosed in 12 referral centers in Italy from January 1990 to June 2018. The results showed that ACC is predominantly diagnosed as incidentalomas, with female patients being younger and having smaller tumors that more frequently secrete hormones. Surgery is mainly performed through open approach, and adjuvant mitotane therapy is commonly used. Recurrence and death rates are high, and recurrence-free survival predicts overall survival. ACCs presenting as adrenal incidentalomas have a better prognosis.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
F. Ceccato, C. K. Vedolin, G. Voltan, G. Antonelli, M. Barbot, D. Basso, D. Regazzo, C. Scaroni, G. Occhi
Summary: This study aims to evaluate the growth hormone (GH) response in patients with and without acromegaly. It was found that a paradoxical increase in GH levels was observed after glucose intake. The study also revealed a higher prevalence of GH response in acromegalic patients, which was associated with an increased occurrence of glucose metabolism abnormalities.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
Giampaolo Trivellin, Adrian F. Daly, Laura C. Hernandez-Ramirez, Elisa Araldi, Christina Tatsi, Ryan K. Dale, Gus Fridell, Arjun Mittal, Fabio R. Faucz, James R. Iben, Tianwei Li, Eleonora Vitali, Stanko S. Stojilkovic, Peter Kamenicky, Chiara Villa, Bertrand Baussart, Prashant Chittiboina, Camilo Toro, William A. Gahl, Erica A. Eugster, Luciana A. Naves, Marie-Lise Jaffrain-Rea, Wouter W. de Herder, Sebastian J. C. M. M. Neggers, Patrick Petrossians, Albert Beckers, Andrea G. Lania, Richard E. Mains, Betty A. Eipper, Constantine A. Stratakis
Summary: This study identified PAM as a candidate gene associated with pituitary hypersecretion, opening the possibility of developing novel therapeutics based on altering PAM function.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Health Care Sciences & Services
Irene Tizianel, Chiara Sabbadin, Simona Censi, Cristina Clausi, Anna Colpo, Anca Irina Leahu, Maurizio Iacobone, Caterina Mian, Carla Scaroni, Filippo Ceccato
Summary: Primary hyperthyroidism is an endocrine disorder characterized by excessive thyroid hormone synthesis and secretion. Treatment options include medical therapy, radioactive iodine, total thyroidectomy, and in severe cases, therapeutic plasma exchange. Two cases of thyrotoxicosis, one caused by amiodarone treatment and the other by methimazole-induced agranulocytosis, were described as examples of therapeutic plasma exchange applications in clinical practice.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Review
Endocrinology & Metabolism
Marta Padovan, Giulia Cerretti, Mario Caccese, Mattia Barbot, Eleonora Bergo, Gianluca Occhi, Carla Scaroni, Giuseppe Lombardi, Filippo Ceccato
Summary: Despite multimodal treatment, pituitary adenomas can still show a tendency to grow. Temozolomide (TMZ) has been used for the treatment of aggressive pituitary tumors in the past 15 years. The use of TMZ requires a careful balance of different expertise, especially in terms of selection criteria.
EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM
(2023)
Article
Biochemistry & Molecular Biology
Mattia Dalle Nogare, Sarah D'Annunzio, Giovanni Vazza, Daniela Regazzo, Luna Picello, Luca Denaro, Giacomo Voltan, Carla Scaroni, Filippo Ceccato, Gianluca Occhi
Summary: It has been found that aberrant expression of glucose-dependent insulinotropic polypeptide receptor (GIPR) in GH-secreting pituitary adenomas (GH-PAs) can lead to an increase in GH levels after glucose load. This study aimed to investigate if DNA methylation changes in the GIPR locus could contribute to this phenomenon. The results showed differences in methylation levels between GIPR-positive and GIPR-negative GH-PAs, indicating that epigenetic regulation affects GIPR expression. Treatment with 5-aza-2'-deoxycytidine resulted in a reduction in Gipr expression, suggesting a correlation between DNA methylation and Gipr expression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Genetics & Heredity
Giacomo Voltan, Michele Cannito, Michela Ferrarese, Filippo Ceccato, Valentina Camozzi
Summary: Vitamin D plays a crucial role in calcium and phosphate metabolism, bone health, and various extra-skeletal functions. It binds to vitamin D receptors (VDRs) in different tissues, modulating the expression of numerous target genes. Gene polymorphisms in VDRs may influence gene expression, leading to the development of chronic diseases and metabolic complications.
Article
Endocrinology & Metabolism
Beatrice Righi, Salma R. Ali, Jillian Bryce, Jeremy W. Tomlinson, Walter Bonfig, Federico Baronio, Eduardo C. Costa, Guilherme Guaragna-Filho, Guy T'Sjoen, Martine Cools, Renata Markosyan, Tania A. S. S. Bachega, Mirela C. Miranda, Violeta Iotova, Henrik Falhammar, Filippo Ceccato, Marianna R. Stancampiano, Gianni Russo, Eleni Daniel, Richard J. Auchus, Richard J. Ross, S. Faisal Ahmed
Summary: This study aims to investigate the prevalence of comorbidity in adults with 21-hydroxylase CAH and the current practice for assessing comorbidity. A questionnaire was sent to 46 expert centres managing adults with CAH, collecting information on therapy and surveillance practice for osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, and obesity. The results indicate that cardiometabolic and bone morbidities are not uncommon in adults with CAH. Standardized screening and collection of data are needed to explore optimal therapy.
Article
Oncology
Filippo Crimi, Elena Agostini, Alessandro Toniolo, Francesca Torresan, Maurizio Iacobone, Irene Tizianel, Carla Scaroni, Emilio Quaia, Cristina Campi, Filippo Ceccato
Summary: Radiomics is a promising research field that combines big data analysis from tissue texture analysis with clinical questions. We studied the application of CT texture analysis in adrenal pheochromocytomas to define the correlation between the extracted features and the secretory pattern, histopathological data, and natural history of the disease.