Congenital adrenal hyperplasia, ovarian adrenal rest tumours and Addison's disease: an exceptional clinical constellation.
We report a woman in her 20s with congenital adrenal hyperplasia (CAH) due to a clinical diagnosis of 11β-hydroxylase deficiency, bilateral ovarian adrenal rest tumours (OARTs), autoimmune Addison's disease and premature ovarian insufficiency. Despite the combination of CAH and OARTs, she conc…
IFNG-producing self-reactive CD4+ T cells induce autoimmune adrenalitis in a mouse model of Addison's disease.
Autoimmune Addison's disease (AD) is a rare but life-threatening disorder caused by immune-mediated destruction of the adrenal cortex, and progress in therapy has been limited by insufficient mechanistic insight. Here, we establish a model of Experimental Autoimmune Adrenalitis (EAA) that recapitula…
Delayed diagnosis and treatment of Sheehan syndrome: a case report.
To report a case of Sheehan syndrome diagnosed and treated nearly 2 decades after a postpartum hemorrhage. Case report. A 45-year-old woman presenting with nonspecific symptoms found to have severe hyponatremia and panhypopituitarism 1 month after immigrating from China and 17 years after a postpart…
Systematic and proactive evaluation of AIRE missense variant effects.
Pathogenic variants in the autoimmune regulator (AIRE) cause autoimmune polyendocrine syndrome type 1 (APS-1), a rare primary immunodeficiency disease with symptoms including hypoparathyroidism, adrenal insufficiency, and chronic mucocutaneous candidiasis. AIRE increases the expression and presentat…
Thirty-three years of X-linked adrenoleukodystrophy diagnosis at a Brazilian reference center: diagnostic patterns and key findings.
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. Although the quantification of very long-chain fatty acids (VLCFA) is an old technique implemented to diagnose and monitor, the limited number of experienced clinical biochemists in this field and also the limited availab…
Alopecia areata as a sentinel condition for systemic autoimmunity: a global bidirectional cohort study.
Introduction Alopecia areata (AA) is an autoimmune, non-scarring hair loss disorder increasingly recognized as a systemic immune-mediated condition. Previous studies examining AA-associated autoimmune diseases were limited by narrow disease scope, single-country cohorts, or lack of bidirectional and…
The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases.
A data-driven and expert/patient consensus-based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the…
Delay in Diagnosis of Addison's Disease: A Case Report and Literature Review.
Primary adrenal insufficiency is a rare disorder prone to delay in diagnosis after initial presentation. Multiple factors including a wide range of presentations, slow onset of symptoms, and other human factors may be contributing to challenges with the diagnosis.