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Journals
Best Practice & Research. Clin...
Best Practice & Research. Clinical Endocrinology & Metabolism
#1
JOURNAL ARTICLE
María Monteagudo, Bruna Calsina, Milton E Salazar-Hidalgo, Ángel M Martínez-Montes, Elena Piñeiro-Yáñez, Eduardo Caleiras, Maria Carmen Martín, Sandra Rodríguez-Perales, Rocío Letón, Eduardo Gil, Alexandre Buffet, Nelly Burnichon, Ángel Fernández-Sanromán, Alberto Díaz-Talavera, Sara Mellid, Ester Arroba, Clara Reglero, Natalia Martínez-Puente, Giovanna Roncador, Maria Isabel Del Olmo, Pedro José Pinés Corrales, Cristina Lamas Oliveira, Cristina Álvarez-Escolá, María Calatayud Gutiérrez, Adrià López-Fernández, Nuria Palacios García, Rita María Regojo, Luis Robles Díaz, Nuria Romero Laorden, Oscar Sanz Guadarrama, Nicole Bechmann, Felix Beuschlein, Letizia Canu, Graeme Eisenhofer, Martin Fassnacht, Svenja Nölting, Marcus Quinkler, Elena Rapizzi, Hanna Remde, Henri J Timmers, Judith Favier, Anne-Paule Gimenez-Roqueplo, Cristina Rodriguez-Antona, Maria Currás-Freixes, Fatima Al-Shahrour, Alberto Cascón, Luis J Leandro-García, Cristina Montero-Conde, Mercedes Robledo
Pheochromocytomas and paragangliomas are rare neuroendocrine tumours. Around 20-25 % of patients develop metastases, for which there is an urgent need of prognostic markers and therapeutic stratification strategies. The presence of a MAML3-fusion is associated with increased metastatic risk, but neither the processes underlying disease progression, nor targetable vulnerabilities have been addressed. We have compiled a cohort of 850 patients, which has shown a 3.65 % fusion prevalence and represents the largest MAML3-positive series reported to date...
August 29, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#2
EDITORIAL
Peter Hammond
No abstract text is available yet for this article.
August 27, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#3
REVIEW
Azmi Mohammed, Yaasir H Mamoojee, Richard Quinton
No abstract text is available yet for this article.
August 25, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#4
REVIEW
Zbyněk Tüdös, Lucia Veverková, Jan Baxa, Igor Hartmann, Filip Čtvrtlík
The topic of the diagnosis of phaeochromocytomas remains highly relevant because of advances in laboratory diagnostics, genetics, and therapeutic options and also the development of imaging methods. Computed tomography still represents an essential tool in clinical practice, especially in incidentally discovered adrenal masses; it allows morphological evaluation, including size, shape, necrosis, and unenhanced attenuation. More advanced post-processing tools to analyse digital images, such as texture analysis and radiomics, are currently being studied...
August 23, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#5
REVIEW
Alessio Imperiale, Valentina Berti
Radiomics revolutionizes medical imaging by providing quantitative analysis that complements traditional qualitative assessments through advanced computational techniques. In this narrative review we have investigated the impact of succinate dehydrogenase (SDH) pathogenic variants on the radiomic profile of 18 F-FDG, 18 F-DOPA, and 68 Ga-DOTA-peptides PET in paragangliomas, focusing on head and neck localizations (HNPGLs). This influence manifests in uptake intensity and textural heterogeneity, revealing a complex radiomic landscape that may reflect specific tumor behaviors and mutation statuses...
August 23, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#6
REVIEW
Jingjing Jiang, Yujun Liu
Pheochromocytomas and paragangliomas (PPGLs) represent the highest degree of heritability of any known tumor types in humans. Previous studies have characterized a dramatic difference between Chinese and European Caucasians with regards to both genetics and clinical features of PPGLs. The proportion of PGLs in Chinese patients was higher than in Caucasians, and the prevalence of metastasis was much lower in Chinese patients. Compared with Caucasians, there were more pathogenic variants (PVs) found in HRAS and FGFR1, but less in NF1 and SDHB...
August 23, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#7
REVIEW
Rebecca C Sagar, Victoria Millson-Brown
Gender incongruence and the number of people seeking gender affirming hormone treatment has dramatically risen in the last two decades. In the UK, transgender women and non-binary transfeminine individuals are typically treated with simultaneous suppression of endogenous testosterone production through anti-androgens and exogenous oestradiol replacement. Oestrogen replacement comes in different forms and is primarily given as transdermal (gel or patch) or oral preparations in the UK. Decisions around preparation choice are based on a combination of individual preference and/or mitigating the chance of complications based on individual risk profiles...
August 3, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#8
REVIEW
Katharina Wang, Alessa Fischer, Umberto Maccio, Constanze Hantel, Felix Beuschlein, Ashley B Grossman, Karel Pacak, Svenja Nölting
While the establishment of human phaeochromocytoma and paraganglioma (PPGL) cell lines has proven to be particularly difficult over several decades of research, there are other reliable pre-clinical PPGL models currently available. This review provides a summary of these models, together with our recently established personalised drug screening platform using patient-derived PPGL primary cultures. Such currently available PPGL models include murine and rat PPGL cell lines, of which only one cell line (PC12) is publicly accessible through a cell repository, and PPGL animal models, of which the patient-derived xenograft models are promising but complex to establish...
July 4, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#9
EDITORIAL
Moisés Mercado
No abstract text is available yet for this article.
July 3, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#10
REVIEW
Alison May Berner, Sarah Elizabeth Atkinson
There is evidence that gender-affirming hormone treatment (GAHT) for transgender individuals modulates their risk for specific malignancies including breast and prostate cancer, and meningiomas. However, there is insufficient data to make precise risk estimates accounting for age and inherited cancer risk. As such, screening recommendations remain broad. Even less evidence exists for best practice in the management of active or historical cancers in the transgender population. Guidance is therefore mainly extrapolated from cisgender populations but with considerations of the significant benefits of GAHT in the face of any hormonal risk...
June 26, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#11
REVIEW
Nipun Lakshitha de Silva, Anastasia Dimakopoulou, Oliver Quinton, Channa N Jayasena
Identifying metabolic and cardiovascular risks of gender-affirming hormone therapy (GAHT) is challenging due to other confounding variables that affect patient outcomes and the diversity of treatment regimes. Masculinising hormone therapy produces atherogenic lipid profiles, while effects on other metabolic parameters are not consistent. There is insufficient evidence to conclude if cardiovascular disease risk among transmen is increased. The effects of feminising hormone therapy on metabolic parameters do not demonstrate a consistent pattern in the available literature...
June 26, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#12
REVIEW
A Dimakopoulou, L J Seal
Testosterone therapy is the main hormonal treatment offered in transmen to alleviate somatic gender dysphoria. Testosterone can be administered via topical or injectable preparations to achieve physical changes resulting in masculinisation and improve quality of life for the treated individuals. The aim of our paper is to outline methods for testosterone replacement, their impact on main body systems of transmen, potential associated health risks and long term follow up. Androgen use in transgender medicine is safe with appropriate endocrine guidance and monitoring...
June 25, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#13
REVIEW
James MacFarlane, Márta Korbonits
Pegvisomant is a growth-hormone (GH) receptor antagonist that prevents the formation of the active heterotrimer of the dimerised GH receptor and the GH molecule necessary for downstream signal transduction. Over the past 20 years, it has become a key therapeutic option for physicians treating syndromes of GH/IGF-1 excess. Sufficient longitudinal follow-up data suggest that it can be deemed both safe and effective. It is the drug with the greatest potential for achieving an amelioration of the biochemical effects of GH excess with a corresponding normalisation of IGF-1 levels; however, insufficient dose titration has lessened real-world therapeutic outcomes...
July 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#14
REVIEW
Mónica Marazuela, Rebeca Martínez-Hernandez, Montserrat Marques-Pamies, Betina Biagetti, Marta Araujo-Castro, Manel Puig-Domingo
Although predictors of response to first-generation somatostatin receptor ligands (fg-SRLs), and to a lesser extent to pasireotide, have been studied in acromegaly for many years, their use is still not recommended in clinical guidelines. Is there insufficient evidence to use them? Numerous biomarkers including various clinical, functional, radiological and molecular markers have been identified. The first ones are applicable pre-surgery, while the molecular predictors are utilized for patients not cured after surgery...
July 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#15
REVIEW
Luiz Eduardo Wildemberg, Christhiane Fialho, Mônica R Gadelha
Injectable first-generation somatostatin receptor ligands (fg-SRLs) are the standard of care of medical treatment for acromegaly. While fg-SRLs control acromegaly in up to 50 % of patients, they may lead to bothersome injection pain and site reactions. Paltusotine is an investigational, highly selective somatostatin receptor subtype 2 agonist, which is administered orally once a day. To date, phase 2 and 3 clinical trials suggest paltusotine treatment can achieve biochemical and symptom control in acromegaly, with a safety profile comparable to those of the fg-SRLs...
May 21, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#16
REVIEW
Daniel Marrero-Rodríguez, Alberto Moscona-Nissan, Jessica Sidauy-Adissi, Fabian Haidenberg-David, Esbeydi Jonguitud-Zumaya, Leonel de Jesus Chávez-Vera, Florencia Martinez-Mendoza, Keiko Taniguchi-Ponciano, Moises Mercado
GH-secreting tumors represent 15 % to 20 % of all pituitary neuroendocrine tumors (pitNETs), of which 95 % occur in a sporadic context, without an identifiable inherited cause. Recent multi-omic approaches have characterized the epigenomic, genomic, transcriptomic, proteomic and kynomic landscape of pituitary tumors. Transcriptomic analysis has allowed us to discover specific transcription factors driving the differentiation of pituitary tumors and gene expression patterns. GH-secreting, along with PRL- and TSH-secreting pitNETs are driven by POU1F1; ACTH-secreting tumors are determined by TBX19; and non-functioning tumors, which are predominantly of gonadotrope differentiation are conditioned by NR5A1...
May 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#17
REVIEW
Lucio Vilar, Luciana Ansaneli Naves, Manoel Ricardo Alves Martins, Antônio Ribeiro-Oliveira
A small proportion of the patients with acromegaly present with apparently normal basal GH levels and suppressible GH levels despite increased IGF-1 levels, a pattern called micromegaly by some authors. Whether this pattern represents a distinct entity or is just an expression of acromegaly in its early stages is still a matter of debate. Nevertheless, these patients have some peculiar characteristics such as being more likely older and male, mostly harbour microadenomas or small macroadenomas, and have lower IGF-1 and postglucose GH levels...
May 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#18
REVIEW
Luigi Albano, Marco Losa, Enrico Garbin, Edoardo Pompeo, Lina Raffaella Barzaghi, Pietro Mortini
Stereotactic radiosurgery (SRS) more and more frequently plays a crucial role in the treatment of acromegaly. We provide a systematic review of the literature and meta-analysis, according to PRISMA, on SRS for the management of growth hormone (GH)-secreting pituitary adenomas, including several radiosurgical techniques, with the aim of describing efficacy and safety of this treatment. A weighted random effects model was used to calculate pooled outcome estimates. From 346 abstract reviews, 27 retrospective studies were included...
April 29, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#19
EDITORIAL
Moisés Mercado
No abstract text is available yet for this article.
April 20, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
#20
REVIEW
Federica Guaraldi, Francesca Ambrosi, Costantino Ricci, Luisa Di Sciascio, Sofia Asioli
Somatotroph (GH) adenomas/PitNETs typically arise from adenohypophysis and are biochemically active, leading to acromegaly and gigantism. More rarely, they present with ectopic origin and do not present overt biochemical or clinical features (silent variants). Histopathological examination should consider the clinical and radiological background, and include multiple steps assessing tumor morphology, pituitary transcription factors (PTFs), hormone secretion, proliferation markers, granulation, and somatostatin receptors (STRs), aimed at depicting as better as possible tumor origin (in case of non-functioning and/or metastatic tumor), and clinical behavior, including response to treatment...
April 2, 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
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