Centre for Endocrinology: Recent submissions
Now showing items 201-220 of 560
-
Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK
(Oxford University Press, 2021-05-12)Context Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions ... -
One Fourth of Adult Patients With Acromegaly Have Tall Stature With Similar Frequency in Males And Females
(Oxford University Press, 2021-05-03) -
CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype
(Oxford University Press, 2021-05-03) -
Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty
(Oxford University Press, 2021-05-03) -
Serum inflammation-based scores in endocrine tumors.
(2021-04-10)CONTEXT: Serum inflammation-based scores reflect systemic inflammatory response and/or patients' nutritional status, and may predict clinical outcomes in cancer. While these are well-described and increasingly used in ... -
Invasive ACTH-Producing Pituitary Gland Neoplasm Secondary to MSH2 Mutation
(Elsevier, 2021-04-04) -
Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signaling
Obesity is a global epidemic causing morbidity and impaired quality of life. The melanocortin receptor 4 (MC4R) is at the crux of appetite, energy homeostasis, and body-weight control in the central nervous system and is ... -
Genetics of Acromegaly and Gigantism.
(MDPI, 2021-03-29)Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined pituitary tumour type. This is true both for germline and somatic mutations. Germline mutations occur in several known genes (AIP, ... -
Posterior pituitary tumours: patient outcomes and determinants of disease recurrence or persistence.
(2021-03-01)OBJECTIVE: Posterior pituitary tumours (PPTs) are rare neoplasms with the four recognised subtypes unified by thyroid transcription factor-1 (TTF-1) expression, according to the 2017 WHO classification. Though traditionally ... -
Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?
(2021-03-01)The WHO Classification of Endocrine Tumours designates pituitary neoplasms as adenomas. A proposed nomenclature change to pituitary neuroendocrine tumors (PitNETs) has been met with concern by some stakeholder groups. The ... -
Molecular characterization of DICER1-mutated pituitary blastoma.
(2021-03-01)Pituitary blastoma (PitB) has recently been identified as a rare and potentially lethal pediatric intracranial tumor. All cases that have been studied molecularly possess at least one DICER1 pathogenic variant. Here, we ... -
Natriuretic Peptide Expression and Function in GH3 Somatolactotropes and Feline Somatotrope Pituitary Tumours.
(2021-01-22)Patients harbouring mutations in genes encoding C-type natriuretic peptide (CNP; NPPC) or its receptor guanylyl cyclase B (GC-B, NPR2) suffer from severe growth phenotypes; loss-of-function mutations cause achondroplasia, ... -
ENDO-ERN expert opinion on the differential diagnosis of pubertal delay.
(2021-01-29)The differential diagnoses of pubertal delay include hypergonadotropic hypogonadism and congenital hypogonadotropic hypogonadism (CHH), as well as constitutional delay of growth and puberty (CDGP). Distinguishing between ... -
Paediatric Cushing's disease: Epidemiology, pathogenesis, clinical management and outcome.
(2021-01-30)Cushing's disease (CD) is rare in paediatric practice but requires prompt investigation, diagnosis and therapy to prevent long-term complications. Key presenting features are a change in facial appearance, weight gain, ... -
Association of Self-Reported Polycystic Ovary Syndrome, Obesity, and Weight Gain From Adolescence to Adulthood With Hypertensive Disorders of Pregnancy: A Community-Based Approach.
(2021-02-01)The purpose of this prospective, population-based cohort study was to evaluate the roles of polycystic ovary syndrome (PCOS), obesity, weight gain, and hyperandrogenemia in the development of hypertensive disorders of ... -
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia - data from the I-CAH registry.
(2021-01-01)OBJECTIVE: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids ...