Article
Endocrinology & Metabolism
Amina Boukerrouni, Thomas Cuny, Thibaut Anjou, Isabelle Raingeard, Amandine Ferriere, Solange Grunenwald, Jean-Christophe Maiza, Emeline Marquant, Nicolas Sahakian, Sarah Fodil-Cherif, Laurence Salle, Patricia Niccoli, Hanitra Randrianaivo, Emmanuel Sonnet, Nicolas Chevalier, Philippe Thuillier, Delphine Vezzosi, Rachel Reynaud, Henry Dufour, Thierry Brue, Antoine Tabarin, Brigitte Delemer, Veronique Kerlan, Frederic Castinetti, Anne Barlier, Pauline Romanet
Summary: This study is the first focusing on the hereditary predisposition to prolactinomas and investigates the prevalence of germline mutations in a large cohort of patients with isolated prolactinomas.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Clinical Neurology
Matthias Dottermusch, Ulrich Schueller, Christian Hagel, Wolfgang Saeger
Summary: This study investigates the epigenomic identities of hormone-negative PitNET/adenomas lacking clear transcription factor immunopositivity and challenges the legitimacy of "null cell" tumors as a distinct PitNET/adenoma subtype.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Endocrinology & Metabolism
Pedro Marques, Sayka Barry, Eivind Carlsen, David Collier, Amy Ronaldson, Joan Grieve, Neil Dorward, Nigel Mendoza, Ramesh Nair, Samiul Muquit, Ashley B. Grossman, Marta Korbonits
Summary: NCAM expression does not differ significantly between PitNETs and normal pituitary, and is not associated with tumor invasiveness or proliferation. However, cytokines like CXCL10, CX3CL1, and FGF-2 may play a role in modulating NCAM expression in PitNETs.
JOURNAL OF NEUROENDOCRINOLOGY
(2021)
Review
Oncology
Giovanni Morana, Dennis Shaw, Shannon M. MacDonald, Claire Alapetite, Thankamma Ajithkumar, Aashim Bhatia, Herve Brisse, Camilo Jaimes, Thomas Czech, Girish Dhall, Jason Fangusaro, Cecile Faure-Conter, Maryam Fouladi, Darren Hargrave, Julie H. Harreld, Dipayan Mitra, James C. Nicholson, Mark Souweidane, Beate Timmermann, Gabriele Calaminus, Ute Bartels, Brigitte Bison, Matthew J. Murray
Summary: Homogeneous and common objective disease assessments and standardised response criteria are essential for international clinical trials on CNS germ cell tumours. The current differences between European protocols and those of North America regarding radiological disease response assessment prompted the establishment of an international working group. This group developed new clinical imaging standards for the most common sites of CNS germ cell tumours, allowing for a more consistent evaluation of treatment response and facilitating comparison of treatment outcomes across international studies.
Article
Endocrinology & Metabolism
Joos Meyer, Ibrahima Diouf, James King, Kate Drummond, Stan Stylli, Andrew Kaye, Tomas Kalincik, Helen Danesh-Meyer, R. C. Andrew Symons
Summary: This study compares the performance of macular ganglion cell layer (mGCL) and peripapillary retinal nerve fibre layers (pRNFL) as covariates in predictive models of long-term visual outcomes following pituitary or parasellar tumor surgical resection. The study found that mGCL performed better in predicting long-term visual field recovery.
Article
Urology & Nephrology
Catalina A. Palma, Geoffrey Watson, Peter Earls, Nitya Patanjali, Jerome Laurence, Scott Leslie
Summary: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disorder characterized by a mutation in the fumarate hydratase (FH) gene. Patients with HLRCC have a high likelihood of developing cutaneous leiomyomas, uterine leiomyomas, and renal cell cancer (RCC). Compared to sporadic RCC, HLRCC-associated RCC tends to occur at a younger age and has a more aggressive nature with a higher potential for rapid metastasis. We present a case of a 50-year-old woman with an FH mutation, early onset symptomatic uterine leiomyomas, and RCC, along with the first reported case of isolated metastasis to the pituitary gland.
UROLOGY CASE REPORTS
(2022)
Review
Urology & Nephrology
Sarah A. Howles, Rajesh V. Thakker
NATURE REVIEWS UROLOGY
(2020)
Article
Medicine, Research & Experimental
Marta Onopiuk, Bonnie Eby, Vasyl Nesin, Peter Ngo, Megan Lerner, Caroline M. Gorvin, Victoria J. Stokes, Rajesh Thakker, Maria Luisa Brandi, Wenhan Chang, Mary Beth Humphrey, Leonidas Tsiokas, Kai Lau
Review
Endocrinology & Metabolism
Andrew Arnold, Elaine Dennison, Christopher S. Kovacs, Michael Mannstadt, Rene Rizzoli, Maria Luisa Brandi, Bart Clarke, Rajesh V. Thakker
Summary: This article discusses the physiological and pathological aspects of hormonal regulation of biomineralization, emphasizing the importance of mineral intake, serum concentrations of mineral, and hormonal regulators in this process. It also highlights the crucial role of biomineralization in providing rigidity and flexibility to the skeleton, and the balance required for proper skeletal metabolism.
NATURE REVIEWS ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Christopher S. Kovacs, Catherine Chaussain, Philip Osdoby, Maria Luisa Brandi, Bart Clarke, Rajesh V. Thakker
Summary: The major mineralized tissues, bone and teeth, share mechanisms governing their development and mineralization, including hormonal regulation and gene control. Systemic disorders and treatments can affect both bone and teeth similarly, with teeth experiencing more permanent effects due to lack of remodeling after formation. Understanding these shared mechanisms is crucial for screening and treating disorders affecting both bone and teeth.
NATURE REVIEWS ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Paul J. Newey, Fadil M. Hannan, Abbie Wilson, Rajesh Thakker
Summary: Disorders of calcium homeostasis are common metabolic bone diseases encountered by endocrinologists, with some cases having a monogenic etiology. Recognition and diagnosis of these disorders are important for patient management and identifying family members at risk of disease.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Biology
Yoanna Ariosa-Morejon, Alberto Santos, Roman Fischer, Simon Davis, Philip Charles, Rajesh Thakker, Angus K. T. Wann, Tonia L. Vincent
Summary: By using in vivo pulsed SILAC labelling, the study found reduced new protein incorporation in cartilage, bone, and skin with age. Age-related diseases may be associated with changes in epigenetic modulators, decreased growth factors, mitochondrial dysregulation, and reduced collagen synthesis.
Article
Endocrinology & Metabolism
Michael Mannstadt, Luisella Cianferotti, Rachel Gafni, Francesca Giusti, Elizabeth Helen Kemp, Christian A. Koch, Kelly L. Roszko, Liam Yao, Gordon H. Guyatt, Rajesh Thakker, Weibo Xia, Maria-Luisa Brandi
Summary: This article summarizes the diagnostic criteria for hypoparathyroidism and discusses the clinical presentation and genetic causes of the nonsurgical forms. It provides an update on these topics and suggests a research agenda for improving diagnosis and prognosis. The article also discusses the characteristics of measuring calcium and PTH and the utility of these measurements in predicting long-term hypoparathyroidism. In addition, it addresses the genetic diagnosis of hypoparathyroidism and the associated phenotypic characteristics.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Review
Endocrinology & Metabolism
John P. Bilezikian, Aliya A. Khan, Shonni J. Silverberg, Ghada El-Hajj Fuleihan, Claudio Marcocci, Salvatore Minisola, Nancy Perrier, Antonio Sitges-Serra, Rajesh Thakker, Gordon Guyatt, Michael Mannstadt, John T. Potts, Bart L. Clarke, Maria Luisa Brandi
Summary: The last international guidelines on the evaluation and management of primary hyperparathyroidism (PHPT) were published in 2014. New research since then has led to new insights in epidemiology, pathophysiology, diagnosis, measurements, genetics, outcomes, presentations, new imaging modalities, target and other organ systems, pregnancy, evaluation, and management. An international group of experts reviewed these advances in knowledge and provided evidence-based recommendations and guidelines for the evaluation and management of PHPT.
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Review
Endocrinology & Metabolism
Fadil M. Hannan, Taha Elajnaf, Laura N. Vandenberg, Stephen H. Kennedy, Rajesh V. Thakker
Summary: Lactation is crucial for the health of both infants and mothers, and is regulated by reproductive and metabolic hormones. The development of mammary glands and synthesis of milk are closely related to hormonal functions, which are stimulated by infant suckling. After weaning, there is a large-scale cell loss in the glands leading to involution. The hormonal composition of human milk also has effects on infant health and development. Additionally, endocrine and metabolic diseases, labor interventions, and exposure to endocrine-disrupting chemicals can cause lactation insufficiency.
NATURE REVIEWS ENDOCRINOLOGY
(2022)
Review
Endocrinology & Metabolism
Salvatore Minisola, Seiji Fukumoto, Weibo Xia, Alessandro Corsi, Luciano Colangelo, Alfredo Scillitani, Jessica Pepe, Cristiana Cipriani, Rajesh Thakker
Summary: Tumor-induced osteomalacia is a rare paraneoplastic syndrome characterized by bone softening and various symptoms. It is often underdiagnosed due to nonspecific symptoms. Biochemical features include hypophosphatemia, abnormal FGF23 levels, and abnormal vitamin D levels. The underlying tumors are usually phosphaturic mesenchymal tumors.
Editorial Material
Endocrinology & Metabolism
Rajesh V. Thakker
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Endocrinology & Metabolism
Caroline M. Gorvin, Paul J. Newey, Rajesh Thakker
Summary: By evaluating more than 300 uncharacterized variants, researchers found that 5 rare PRLR gene variants were associated with altered signaling pathways, including STAT5 signaling, Akt and FOXO1 activity, cell viability, and apoptosis. These findings provide further understanding of PRLR structure-function and suggest that rare PRLR gene variants may have diverse modulating effects on PRLR signaling, although the pathophysiological relevance of such alterations remains to be defined.
JOURNAL OF MOLECULAR ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Katherine A. English, Kate E. Lines, Rajesh V. Thakker
Summary: Primary hyperparathyroidism (PHPT) can occur as part of a hereditary syndromic disorder or as a non-syndromic disease. Recognition of the hereditary forms is important for implementing screening protocols and investigating associated tumors. Most patients with syndromic PHPT require parathyroidectomy to limit end-organ damage. Non-syndromic PHPT may be associated with MEN1 gene or CASR mutations.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
(2023)
Article
Endocrinology & Metabolism
Mark Stevenson, Alistair T. Pagnamenta, Heather G. Mack, Judith Savige, Edoardo Giacopuzzi, Kate E. Lines, Jenny C. Taylor, Rajesh Thakker
Summary: Bartter syndrome and Gitelman syndrome are renal tubular disorders that affect the reabsorption of sodium, potassium, and chloride ions. This study reports a case of GS and establishes a diagnosis of BS type-3 through whole-genome sequencing analysis. The results demonstrate the utility of whole-genome sequencing in diagnosing renal tubular disorders with overlapping phenotypes.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
Article
Endocrinology & Metabolism
Marianne S. Elston, Taha Elajnaf, Fadil M. Hannan, Rajesh Thakker
Summary: This study reports a case of ADH1 patient with intracerebral calcifications who also experienced recurrent hypocalcemic and hypercalcemic episodes and myoclonic jerks. Treatment with medication relieved the myoclonus symptoms. Mutational analysis identified a reported CaSR gene mutation in the patient.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)