Article
Endocrinology & Metabolism
Xin Lian, Zhuoran Xu, Shuai Sun, Weiping Wang, Huijuan Zhu, Lin Lu, Xiaorong Hou, Fuquan Zhang
Summary: The study aimed to investigate the efficacy and toxicity of intensity-modulated radiotherapy (IMRT) in treating Cushing's Disease (CD). The results showed that IMRT was a highly effective therapy with low side effects for CD patients, with comparable rates of endocrine remission, tumor control, and recurrence to previous reports.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Kyla Wright, Elisabeth F. C. van Rossum, Elcin Zan, Nicole Werner, Alan Harris, Richard A. Feelders, Nidhi Agrawal
Summary: Endogenous Cushing's syndrome (CS) requires timely diagnosis due to the risks it poses. Traditional diagnostic modalities have limitations, leading to the need for repeated testing. Additionally, the identification of adrenocorticotropic hormone (ACTH)-secreting adenomas can be challenging. Newer methods, such as hair analysis and advanced imaging techniques, offer more accurate and non-invasive diagnostic options for CS patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Xueqing Zheng, He Wang, Wentai Zhang, Shanshan Feng, Yifan Liu, Shuo Li, Xinjie Bao, Lin Lu, Huijuan Zhu, Ming Feng, Renzhi Wang
Summary: This study is the first detailed and systematic comparison between pediatric and adult CD patients. Further exploration of the impact of CD on different genders reveals a more severe and probably an earlier-onset pattern of CD for male patients.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Clinical Neurology
Bertrand Baussart, Stephan Gaillard
Summary: Surgery is the primary treatment for Cushing's disease, requiring technical specificity, especially when no adenoma is identified on preoperative pituitary MRI. A rigorous and planned surgical strategy can prevent pitfalls in Cushing's disease surgery and achieve a high rate of endocrine remission.
ACTA NEUROCHIRURGICA
(2021)
Review
Biochemistry & Molecular Biology
Rosa Maria Paragliola, Andrea Corsello, Giampaolo Papi, Alfredo Pontecorvi, Salvatore Maria Corsello
Summary: Endogenous Cushing's syndrome not only affects phenotype and metabolism, but may also have important effects on other endocrine axes, such as the hypothalamus-pituitary-thyroid axis and the development of autoimmune thyroid diseases. Curing hypercortisolism can restore normal thyroid axis activity, but the impact of Cushing's syndrome on thyroid function may also be related to medication used for treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Adomas Bunevicius, Hideyuki Kano, Cheng-Chia Lee, Michal Krsek, Ahmed M. Nabeel, Amr El-Shehaby, Khaled Abdel Karim, Nuria Martinez-Moreno, David Mathieu, John Y. K. Lee, Inga Grills, Douglas Kondziolka, Roberto Martinez-Alvarez, Wael A. Reda, Roman Liscak, Yan-Hua Su, L. Dade Lunsford, Mary Lee Vance, Jason P. Sheehan
Summary: The study found that early GKRS is associated with a higher rate of endocrine remission, while late GKRS is associated with a lower rate of endocrine remission. Early GKRS should be considered for patients with CD after incomplete pituitary adenoma resection.
JOURNAL OF NEUROSURGERY
(2021)
Article
Neurosciences
Chuan Shao, Junwei Wang, Pan Wang, Nan Wu
Summary: Retrospective analysis was conducted on patients with Cushing's disease (CD) who underwent endoscopic transsphenoidal surgery (ETS) with a layered peel strategy. The study found a low rate of surgical complications postoperatively and no recurrence events during follow-up. However, further studies are needed to confirm the effectiveness and safety of this approach due to the limited number of cases.
Article
Clinical Neurology
Bo Hou, Lu Gao, Lin Shi, Yishan Luo, Xiaopeng Guo, Geoffrey S. Young, Lei Qin, Huijuan Zhu, Lin Lu, Zihao Wang, Ming Feng, Xinjie Bao, Renzhi Wang, Bing Xing, Feng Feng
Summary: The study reveals widespread brain volume loss in active Cushing's disease patients, but significant improvement after TSS. Most brain regions in remitted CD patients showed full recovery, except for the frontal and temporal lobes. ACTH and serum cortisol changes were negatively correlated with brain volume recovery.
JOURNAL OF NEUROSURGERY
(2021)
Article
Clinical Neurology
Adomas Bunevicius, Darrah Sheehan, Mary Lee Vance, David Schlesinger, Jason P. Sheehan
Summary: This study found that technological advancements and growing center experience were important factors for improved endocrine remission rates in patients with CD.
JOURNAL OF NEUROSURGERY
(2021)
Article
Endocrinology & Metabolism
Lia Mesquita Lousada, Mariuxi Jacqueline Borja Tapia, Valter Angelo Sperling Cescato, Gilberto Ochman da Silva, Nina Rosa Castro Musolino, Maria Candida Barisson Villares Fragoso, Marcello Delano Bronstein, Marcio Carlos Machado
Summary: This study aimed to evaluate the impact of pregnancy after pituitary surgery on the recurrence rate in patients with Cushing's disease. The findings showed that there was no association between pregnancy history and recurrence rate.
Review
Endocrinology & Metabolism
Laurence Guignat, Jerome Bertherat
Summary: Transsphenoidal surgery is the first-line treatment for Cushing's disease, with a remission rate of 70%-80%. However, the long-term remission rate is lower due to recurrence. Postoperative corticotroph insufficiency and its duration have been found to be protective factors against recurrence. Long-term monitoring with clinical and hormonal investigations is advised after postoperative recovery of the hypothalamic-pituitary-adrenal axis.
JOURNAL OF NEUROENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Zarina Brady, Aoife Garrahy, Claire Carthy, Michael W. O'Reilly, Christopher J. Thompson, Mark Sherlock, Amar Agha, Mohsen Javadpour
Summary: The study retrospectively analyzed remission rates and postoperative complications in CD patients undergoing ETSS, finding an overall remission rate of 92% with higher rates in microadenoma patients. Postoperative transient and permanent diabetes insipidus occurred in 33% and 23% respectively, necessitating longer follow-up to assess recurrence rates.
BMC ENDOCRINE DISORDERS
(2021)
Review
Medicine, General & Internal
Amit Akirov, Ilan Shimon, Maria Fleseriu, Idit Dotan, Yossi Manisterski, Nirit Aviran-Barak, Varda Nadler, Sandra Alboim, Tzipora Shochat, Gloria Tsvetov, Dania Hirsch
Summary: This study compared the clinical and biochemical characteristics of patients with corticotroph microadenomas and macroadenomas. It was found that macroadenomas had higher levels of ACTH but no association was found between tumor size and cortisol hypersecretion or clinical features of hypercortisolemia. Furthermore, patients with macroadenomas with sphenoid or cavernous sinus invasion had higher biochemical burden, highlighting that extent/location of the adenoma may be more important than size per se.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Mirko Parasiliti-Caprino, Fabio Bioletto, Tommaso Frigerio, Valentina D'Angelo, Filippo Ceccato, Francesco Ferrau, Rosario Ferrigno, Marianna Minnetti, Carla Scaroni, Salvatore Cannavo, Rosario Pivonello, Andrea Isidori, Fabio Broglio, Roberta Giordano, Maurizio Spinello, Silvia Grottoli, Emanuela Arvat
Summary: A clinical model, the Cushing score, was developed and validated to estimate the pre-test probability of hypercortisolism in high-risk population, showing remarkable predictive power for discriminating between patients with and without Cushing's syndrome.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Stephanie Du Four, Jorn Van Der Veken, Johnny Duerinck, Elle Vermeulen, Corina E. E. Andreescu, Michael Bruneau, Bart Neyns, Van Velthoven, Brigitte Velkeniers
Summary: In this article, we report a case series of five patients with pituitary carcinoma (PC) and highlight the challenges in diagnosis and treatment. PCs are rare intracranial neoplasms that usually develop from aggressive pituitary adenomas. The mean time interval from initial diagnosis to PC diagnosis was 10.7 years. Various treatment approaches, including surgery, radiotherapy, temozolomide, and immunotherapy, were used, with some patients achieving stable disease. The lack of predictive factors for an aggressive clinical course makes management challenging for PCs.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Martin O. Savage, Helen L. Storr, Philippe F. Backeljauw
Summary: The continuum of growth hormone (GH)-IGF-I axis defects ranges from severe to mild GH deficiency, including GH insensitivity, with various endocrine, biochemical, phenotypic and genetic abnormalities. While extreme cases are easily diagnosed, milder cases are less well defined and may overlap with idiopathic short stature conditions.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2021)
Review
Endocrinology & Metabolism
Martin Oswald Savage, Helen Louise Storr
Summary: Determining the pathogenesis of pediatric growth disorders is often challenging, with a combination of clinical, endocrinological, and genetic evaluations required. Clinical skills are essential for accurate history and symptom assessment, endocrine assessment is crucial for diagnosing hormone deficiency and initiating treatment, and genetic analysis has added a new dimension to investigating short stature. Combining these three approaches with equal importance provides clinicians with the highest chance of identifying the correct causative pathogenetic mechanism in children with short stature of unknown origin.
ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2021)
Article
Health Care Sciences & Services
R. Asaad Baksh, Andre Strydom, Sarah E. Pape, Li F. Chan, Martin C. Gulliford
Summary: This study found that individuals with Down syndrome are more susceptible to being diagnosed with COVID-19, especially those with chronic respiratory diseases. Therefore, they are particularly vulnerable during viral pandemics and should be prioritized for vaccinations.
JOURNAL OF GENERAL INTERNAL MEDICINE
(2022)
Article
Pediatrics
Christopher M. Parry, Li F. Chan, Daniel F. Carr, Daniel B. Hawcutt
Summary: PDGFD is expressed in the human adrenal cell line, H295R, and its expression can be influenced by beclometasone and steroidogenesis agonists/antagonists. This study provides in vitro evidence supporting a potential link between the PDGF and cortisol production pathways, indicating that PDGFD variants may impact an individual's sensitivity to corticosteroid-induced adrenal suppression.
PEDIATRIC RESEARCH
(2023)
Article
Multidisciplinary Sciences
Cristina Perez-Ternero, Aisah A. Aubdool, Raj Makwana, Gareth J. Sanger, Roland H. Stimson, Li F. Chan, Amie J. Moyes, Adrian J. Hobbs
Summary: C-type natriuretic peptide (CNP) plays a crucial role in lipid homeostasis and energy balance by regulating the expression of uncoupling protein-1 and lipid utilization. CNP exerts these metabolic regulatory actions by inhibiting sympathetic thermogenic programming and reducing peroxisome proliferator-activated receptor-gamma coactivator-1 alpha expression, while driving adipogenesis via NPR-B/protein kinase-G.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Endocrinology & Metabolism
Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Ruth Krone, Debora Braslavsky, Maria Clemente, Nanik Ram, Indraneel Banerjee, Semra Cetinkaya, Federica Buonocore, Tulay Guran, John C. Achermann, Louise Metherell, Rathi Prasad
Summary: SPLIS is a syndrome characterized by various endocrine disorders, with glucocorticoid insufficiency and adrenal insufficiency being the most common manifestations. Other endocrine abnormalities include mineralocorticoid deficiency, primary gonadal insufficiency, and mild primary hypothyroidism. There is no clear genotype-phenotype correlation, but certain variants are consistently associated with specific endocrine phenotypes.
ENDOCRINE CONNECTIONS
(2022)
Article
Endocrinology & Metabolism
Aisha A. Aslam, R. Asaad Baksh, Sarah E. Pape, Andre Strydom, Martin C. Gulliford, Li F. Chan
Summary: Individuals with Down syndrome have a higher incidence of diabetes, especially at a younger age. Obesity is associated with an increased risk of type 2 diabetes in individuals with Down syndrome.
Article
Medicine, General & Internal
Joseph Freer, Joanna Orr, Joan K. Morris, Robert Walton, Leo Dunkel, Helen L. Storr, Andrew J. Prendergast
Summary: Short stature at age 3 is associated with lower language development scores from 3 to 11 years of age in UK children, and this association remains significant after adjusting for other factors.
Article
Endocrinology & Metabolism
Rachel Forfar, Mashal Hussain, Puneet Khurana, Jennifer Cook, Steve Lewis, Dillon Popat, David Jackson, Ed McIver, Jeff Jerman, Debra Taylor, Adrian J. L. Clark, Li F. Chan
Summary: The overproduction of ACTH leads to significant morbidity, but there is currently no effective medical treatment to directly block its action. This study identified a highly specific MC2R antagonist, providing a foundation for the clinical investigation of small-molecule ACTH antagonists as therapeutic agents.
ENDOCRINE CONNECTIONS
(2022)
Article
Primary Health Care
H. L. Storr, J. Freer, J. Child, J. H. Davies
BRITISH JOURNAL OF GENERAL PRACTICE
(2023)
Editorial Material
Primary Health Care
Justin H. Davies, Jenny Child, Joseph Freer, Helen L. Storr
BRITISH JOURNAL OF GENERAL PRACTICE
(2023)
Article
Endocrinology & Metabolism
Valeria Hasenmajer, Rosario Ferrigno, Marianna Minnetti, Bianca Pellegrini, Andrea M. Isidori, Andrea Lenzi, Mariacarolina Salerno, Marco Cappa, Li Chan, Maria Cristina De Martino, Martin O. Savage
Summary: Adrenal insufficiency is a severe endocrine disorder characterized by insufficient secretion of glucocorticoid and/or mineralocorticoid due to impaired adrenal function or inadequate adrenal stimulation. This review focuses on rare genetic causes of primary adrenal insufficiency with isolated glucocorticoid or combined glucocorticoid and mineralocorticoid deficiencies, as well as rare syndromes of isolated mineralocorticoid deficiency. The diagnosis of these rare genetic forms of pediatric adrenal insufficiency is challenging due to their clinical heterogeneity and rarity, and this review aims to provide an overview of their genetic and clinical features, as well as diagnostic and therapeutic approaches.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2023)
Article
Public, Environmental & Occupational Health
R. Asaad Baksh, Sarah E. Pape, Li F. Chan, Aisha A. Aslam, Martin C. Gulliford, Andre Strydom
Summary: This study comprehensively estimated the risk of multiple morbidity across the lifespan in people with Down syndrome and identified syndrome-specific health conditions. The results showed that people with Down syndrome had an increased risk of dementia, hypothyroidism, epilepsy, and haematological malignancy, while asthma, cancer, ischaemic heart disease, and hypertension were less frequent. Compared to people with other intellectual disabilities, people with Down syndrome had higher risks of dementia, hypothyroidism, obstructive sleep apnoea, and haematological malignancy, with reduced rates for a third of conditions. The morbidities in Down syndrome could be categorized based on age-related incidence trajectories and clustered into typical syndromic conditions, cardiovascular diseases, autoimmune disorders, and mental health conditions.
LANCET PUBLIC HEALTH
(2023)
Article
Pediatrics
Gemma White, Shakira Cosier, Afiya Andrews, Lee Martin, Ruben Willemsen, Martin O. Savage, Helen L. Storr
Summary: This observational study evaluated the sensitivity and specificity of UK and Dutch referral criteria for predicting pathological short stature. The UK criteria showed limited sensitivity and specificity, while the Dutch criteria had higher sensitivity. Considering the child's genetic height potential before referral can prevent unnecessary assessments.
BMJ PAEDIATRICS OPEN
(2022)
Article
Endocrinology & Metabolism
Federica Buonocore, Avinaash Maharaj, Younus Qamar, Katrin Koehler, Jenifer P. Suntharalingham, Li F. Chan, Bruno Ferraz-de-Souza, Claire R. Hughes, Lin Lin, Rathi Prasad, Jeremy Allgrove, Edward T. Andrews, Charles R. Buchanan, Tim D. Cheetham, Elizabeth C. Crowne, Justin H. Davies, John W. Gregory, Peter C. Hindmarsh, Tony Hulse, Nils P. Krone, Pratik Shah, M. Guftar Shaikh, Catherine Roberts, Peter E. Clayton, Mehul T. Dattani, N. Simon Thomas, Angela Huebner, Adrian J. Clark, Louise A. Metherell, John C. Achermann
Summary: Genetic causes of primary adrenal insufficiency in children and young people were investigated in a cohort of 155 individuals in the UK, with 66.5% receiving a genetic diagnosis. Pathogenic variants were identified in 11 genes, highlighting the importance of genetic testing in defining the cause of PAI. Age at presentation, treatment, ancestral background, and birth weight can provide diagnostic clues, but genetic testing is often necessary for accurate diagnosis.
JOURNAL OF THE ENDOCRINE SOCIETY
(2021)
