Showing papers in "Best Practice & Research Clinical Endocrinology & Metabolism in 2020"

TL;DR: Paragangliomas and pheochromocytomas are rare neuroendocrine tumours characterized by a strong genetic determinism and the discovery of a germline mutation in one of the SDHx genes changes the patient's follow-up and allows genetic screening of affected families and the presymptomatic follow- up of relatives carrying a mutation.

TL;DR: The present review is aimed at focusing on the "endocrine pebbles" of the mosaic of autoimmunity and of the ASIA syndrome, collecting together 54 cases of sub-acute thyroiditis, 2 cases of Hashimoto's thyroiditis and 1 case of autoimmune adrenal gland insufficiency occurred after exposure to adjuvants.

TL;DR: Novel studies are needed about possible risk factors to reduce the occurence of GD in West Countries and a significant link has been shown also between HCV-related mixed cryoglobulinemia and risk for GD.

TL;DR: In GD, antigen-specific therapy has been recently published, with the induction of T cell tolerance via an immunization by TSH-R peptides, and teprotumumab (a human monoclonal anti-IGF-1R blocking antibody) showed to be very effective in GO patients.

TL;DR: A comprehensive overview of new therapeutic approaches that have been investigated in the past years, including drugs targeting the IGF pathway, tyrosine kinase inhibitors, radionuclide treatment, and immunotherapy are provided.

TL;DR: The most frequent endocrine irAEs associated with anti-PD-1 mAb treatment are thyroid dysfunctions, whereas hypophysitis is mostly linked to anti-CTLA-4 treatment, and Type 1 diabetes mellitus and adrenalitis are rareirAEs.

TL;DR: Clinical presentation of CS is discussed with an eye on the most frequent cortisol-related comorbidities and the main pitfalls of first- and second-line tests in endogenous hypercortisolism diagnostic workup are discussed.

TL;DR: Mitotane use in an adjuvant setting is off-label, but the recent guidelines endorsed by the European Society of Endocrinology and the European Network for the Study of Adrenal Tumors (ENSAT) recommend it in ACC patients at high risk of recurrence.

TL;DR: A beneficial effect of omega-3 fatty acids, and of myo-inositol and selenomethionine have been shown to counteract the appearance of AITD in subjects exposed to environmental or occupational ED.

TL;DR: The introduction of PET/CT/MR has led to a dramatic improvement in the localization of both pheochromocytomas and paragangliomas, together with the increasing availability of new functional imaging radionuclides.

TL;DR: Adrenocortical hyperplasia may be secondary to longstanding ACTH stimulation in ACTH oversecretion as in Cushing's disease, ectopic ACTH secretion or glucocorticoid resistance syndrome and congenital adrenalhyperplasia secondary to various enzymatic defects within the cortex.

TL;DR: The therapeutic approaches for patients with MPPGs are discussed and data derived from clinical trials evaluating targeted therapies such as tyrosine kinase inhibitors, radiopharmaceuticals, immunotherapy, and combinations of these will likely improve the outcomes of patients with advanced and progressiveMPPGs.

TL;DR: The prevalence, outcomes and current and future clinical approaches for the diagnosis of primary aldosteronism are summarized.

TL;DR: This review focuses on the genetic underpinnings of benign cortisol- and aldosterone-producing adrenocortical tumors/hyperplasias and adrencortical carcinoma.

TL;DR: The study of patients with other specific sperm head defects such as acephalic spermatozoa have enabled the identification of new infertility genes such as SUN5, and the genetic causes leading to morphological defects of sperm head are reviewed.

TL;DR: There is no consensus regarding the upper limit of normal for TSH to define thyroid dysfunction and the cut-off levels for intervention and data from interventional trials looking at the impact of levothyroxine treatment on fertility outcome in randomised controlled studies are scarce.

TL;DR: A Th1 immune-preponderance has been shown in the immunopathogenesis of autoimmune thyroiditis (AT), Graves' disease (GD) and Graves' Ophthalmopathy (GO), in which the Th1-chemokines, and their (C-X-C)R3 receptor, have a crucial role.

TL;DR: The associated adverse outcomes of TPOAb in pregnancy and the results of trials exploring methods to reduce such outcomes are discussed and suggested areas for future work are outlined.

TL;DR: Surgical resection of the causal lesion(s) is generally the first-line and most effective treatment to normalize cortisol secretion, and second-line treatments include various pharmacological treatments, bilateral adrenalectomy, and radiotherapy of corticotroph tumors.

TL;DR: The current knowledge about the particular genes and mechanisms involved in intact flagellum, energy availability, and signaling transduction that could cause human AZS are summarized and the respective gene defects known to be responsible for these abnormalities are discussed.

TL;DR: Prospective studies are necessary to further elucidate the pathogenesis of ACT and improve patient outcomes, and favorable prognostic factors include young age, small tumor size, virilization, and adenoma histology.

TL;DR: The best approach for diagnosis - including novel biochemical markers such as copeptin - treatment and follow up of children and adolescents with CDI is provided; the best approach to challenging situations such as post-surgical patients, adipsic patients, patients undergoing chemotherapy and/or in critical care is described.

TL;DR: Autoimmune Addison's disease (AAD) requires life-long substitutive therapy with two-three daily doses of hydrocortisone (HC) or one daily dose of dual-release HC and with fludrocort isone and the lowest possible HC dose must be identified according to clinical and biochemical parameters to minimize long-term complications that include osteoporosis and cardiovascular and metabolic alterations.

TL;DR: Much research is still required in the Genetics of non-obstructive azoospermia and will require multi-institutional initiatives to better understand the genetics of condition.

TL;DR: A new copeptin based diagnostic algorithm is proposed for the reliable diagnosis of diabetes insipidus, which showed high diagnostic accuracy and superiority over the indirect water deprivation test in a recent validation study.

TL;DR: The present review focuses on the embryological, genetic and pathophysiological aspects of thyro-entero-gastric autoimmunity, which may lead to potentially serious consequences like anemia, micronutrients deficiencies, and drugs malabsorption, as well as to an increased risk for malignancies.

TL;DR: The presentation of patients with central diabetes insipidus can vary greatly, depending on the size and location of the lesion, the magnitude of trauma to the neurohypophysis, the degree of destruction of the vasopressin neurons, and the presence of other hormonal deficits from damage to the anterior pituitary.

TL;DR: The iodine requirements for pregnant and lactating women, how population iodine status can be assessed, the effects of maternal iodine deficiency and excess, and current data regarding efficacy of iodine supplementation for women who are pregnant or lactating are described.

TL;DR: Although AVS remains a difficult procedure, success rates may be improved with the use of advanced CT imaging techniques and/or rapid cortisol assays, and new advances in nuclear imaging and steroid profiling may also offer alternatives or adjuncts to AVS in the future.

TL;DR: Management of adipsic DI can be challenging, and requires initial inpatient assessment to establish dose of dDAVP, daily fluid prescription, and eunatraemic weight which can guide day-to-day fluid targets in the long-term.