Generalized skin hyperpigmentation as the only manifestation of X-linked adrenoleukodystrophy.
This article is protected by copyright. All rights reserved. PMID: 31269232 [PubMed - as supplied by publisher]
ConclusionOur pharmacovigilance analysis shows a high reporting frequency of endocrine AEs provoked by ICI monotherapy (especially anti-CTLA-4 therapy) and further reinforced by combination therapy. In addition, treatment with different ICI immunotherapies may result in a unique and distinct profile of endocrinopathies. Early recognition and management of ICI-related endocrine irAEs is of vital importance in clinical practice.
What role does a single measurement of serum cortisol have in the investigation of adrenal insufficiency? Could it help identify which patients require further testing?Clinical Endocrinology
PMID: 31685665 [PubMed - in process]
Although the rates were rare, immune checkpoint inhibitor ‐based treatment was associated with a higher incidence of pituitary‐adrenal dysfunction, particularly for CTLA‐4 inhibitors. AbstractWith the growing use of immune checkpoint inhibitors (ICIs), case reports of rare yet life ‐threatening pituitary‐adrenal dysfunctions, particularly for hypopituitarism, are increasingly being published. In this analysis, we focus on these events by including the most recent publications and reports from early phase I/II and phase III clinical trials and comparing the incidence and ri sks across different ICI regimens. PubMe...
Abstract: Patients with primary adrenal insufficiency (PAI) require increased doses of glucocorticoids and mineralocorticoids during stressors, such as surgery, trauma, and sepsis. Although current guidelines exist for dose adjustments in these situations, there is no accepted dosing regimen for patients with PAI participating in intensive endurance exercise. Given the extensive physiologic stress of events, such as marathons, triathlons, and similar events, it is likely that a “stress-dose” of adrenal replacement therapy will not only prevent adrenal crisis, but also improve performance. A 50-year-old male e...
Management of age-associated medical complications in patients with β-thalassemia. Expert Rev Hematol. 2019 Oct 29;: Authors: Motta I, Mancarella M, Marcon A, Vicenzi M, Cappellini MD Abstract Introduction: β-Thalassemia syndromes are among the most common monogenic disorders worldwide. Clinically, on the basis of the severity of the phenotype, β-thalassemias are classified into two groups: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT). In the last few decades, considerable advances in understanding the pathophysiology of β-thalassemia have...
Over a two-day period, an active 72-year old woman became confined to her bed due to severe, progressive bilateral knee pain. The pain was exacerbated by movement and unresponsive to commercially available analgesics. There was no history of trauma, intravenous drug use, recent intra-articular instrumentation, sick contacts, or insect bites. In the month prior to presentation she was incompletely treated for zoster ophthalmicus with oral antivirals. Her medical history was otherwise notable for well-controlled hemochromatosis, adrenal insufficiency with physiologic steroid replacement, Hashimoto's thyroiditis, and osteopenia.
CONCLUSION: This case illustrates the severity of iatrogenic effects secondary to misuse of topical corticosteroids in NS as well as the need to find effective new treatments for this syndrome. PMID: 31653452 [PubMed - as supplied by publisher]
Conclusions: These results suggest that the compound heterozygous variant of c.1304T> C and c.1228delG of the CYP17A1 gene can lead to 17-OHD. Our findings thus provide a novel insight into the clinical evaluations and molecular basis of 17-OHD.
In conclusion, in this review all the known pathog enic mechanisms causing disorders of nephrological interest in adrenal insufficiency are discussed.