Primary adrenal lymphoma is an unusual but life-threatening cause of adrenal insufficiency. A man in his 50s with type 2 diabetes presented with malaise, gastrointestinal symptoms, dyspnoea and significant unintentional weight loss.

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 availability of technical resources have resulted in scarce reports on the prevalence of X-ALD in developing countries like Brazil. This retrospective cross-sectional study analyzed all records of Brazilian patients diagnosed with X-ALD in LAM/SGM/HCPA from November 1992 to June 2026. Plasma VLCFA levels were analyzed by GC at diagnosis, along with patients' symptoms and their country's geographical origin. This is the largest reported Brazilian cohort (N = 275), comprising the three clinical forms of the disease: Addison disease, adrenomyeloneuropathy and childhood cerebral. Plasma VLCFA levels were consistently elevated across all phenotypes, characterizing the diagnosis together with the clinical manifestations and age. CCALD was primarily characterized by neurodevelopmental regression, seizures, behavioral disturbances, and visual impairment, whereas AMN was mainly associated with progressive myelopathy, and adrenocortical insufficiency was the predominant clinical manifestation in AD. Family history was identified in 43.3% of patients, and the mean diagnostic delay was 2.4 years for CCALD and 7.7 years for AMN, highlighting the importance of early recognition and family screening. Therefore, a detailed description of the patient's clinical presentation is essential for the correct diagnosis and interpretation of biochemical tests. Professionals need to be alert to this disease, given that multidisciplinary care is required.

Adrenocortical carcinoma (ACC) is a rare and aggressive form of cancer. This article presents a multiperspective narrative describing the experience of a patient treated for ACC, the clinical insights of an endocrinologist, and the advocacy perspective of "Let's Cure ACC", a patient association. The patient describes his journey from diagnosis to treatment, disease recurrence, and, ultimately, a disease-free state. Diagnosed at age 45 with locally invasive ACC in 2017, he underwent surgery, chemotherapy, and long-term mitotane therapy. He experienced multiple disease recurrences, repeated surgeries, and chemotherapy, and achieved remission in 2020. Today, the patient remains disease free, although continuing to experience treatment-related adverse effects. He shares the challenges of living with ACC and the effects of treatment on his daily life, particularly adrenal insufficiency (a condition in which the adrenal glands do not produce enough cortisol) complicated by recurrent Addison (adrenal) crises (acute adrenal insufficiency caused by a sudden lack of cortisol, requiring urgent treatment to prevent shock or death). These challenges underscore the importance of patient education, family involvement, and meticulous management of hormone replacement therapy. He emphasizes the importance of being managed through an expert treatment center. The endocrinologist provides an evidence-based perspective on treatment decisions, the role of mitotane in long-term disease control, and the need for ongoing replacement therapy with hydrocortisone to manage adrenal insufficiency following extended mitotane treatment. Finally, the patient association representative emphasizes the unmet informational needs of patients with rare cancers and the pivotal role of advocacy organizations in improving patient and physician awareness of ACC, fostering collaboration, and advocating for better education and support for ACC patients and their families and caregivers. Together, these viewpoints emphasize the need to optimize treatment decisions, strengthen patient-physician collaboration, and share long-term insights to guide care in ACC patients with the aim of achieving the best possible outcomes.

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 conceived spontaneously twice, with complete regression of the tumours under glucocorticoid therapy. Years later, she developed an Addisonian crisis confirmed by positive 21-hydroxylase antibodies and subsequently manifested ovarian failure and mineralocorticoid deficiency. This case illustrates the rare coexistence of distinct adrenal and ovarian pathologies, highlights the potential reproductive impact of OARTs and underscores the need for further study and standardised management strategies.

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 sex-stratified analyses. This study comprehensively evaluated over 50 autoimmune conditions in AA patients, performed bidirectional analyses exploring temporal relationships, and conducted sex-stratified assessments to identify gender-specific risk. Methods We conducted a retrospective cohort study using the TriNetX Global Health Research Network, incorporating de-identified electronic health records from over 120 million patients worldwide. Adults with AA were 1:1 propensity score-matched with controls (n=69,259) based on demographics and comorbidities. Over 50 autoimmune and inflammatory disorders were assessed using Cox proportional hazards models. Reverse analyses and sex-stratified cohorts were performed. Sensitivity analyses tested robustness through temporal restrictions, recent data periods, and stricter diagnostic criteria. Results AA was strongly associated with endocrine, rheumatologic, dermatologic, gastrointestinal, hepatic, neurologic, and systemic autoimmune diseases. Highest hazard ratios included cutaneous lupus erythematosus (HR=9.843), systemic lupus erythematosus (HR=5.807), vitiligo (HR=3.844), lichen planus (HR=3.627), and Addison's disease (HR=3.847). Reverse analyses demonstrated that lichen planus (HR=6.205), cutaneous lupus erythematosus (HR=5.579), and vitiligo (HR=4.505) markedly increased AA risk. Females with AA had higher risks of thyroid, rheumatologic, and cutaneous autoimmune disorders, while males showed higher vitiligo risk. Conclusions AA was associated with increased risk of multiple autoimmune and inflammatory diseases in both directions. These findings support considering AA as a clinically visible marker of increased autoimmune susceptibility and may justify targeted evaluation for thyroid and connective tissue disorders, particularly in females with AA, as well as clinical awareness of AA risk in patients with autoimmune skin diseases.

Pre-eclampsia is a multisystemic disorder characterized by varied degrees of placental malperfusion. It is estimated to affect 3 - 5% of pregnancies globally, accounting for up to 15% of maternal morbidity and mortality. Solutions to improve outcomes for pre-eclampsia and eclampsia are increasingly focused on improving recognition and on timely, effective treatment, notably through the implementation of treatment guidelines and protocols. To date adoption of guidelines in clinical practice have been variable, with the lowest adoption observed in settings where the policies and evidence did not originate. This study is designed to address known barriers by proposing a stakeholder-led, co-designed protocol adaptation process, followed by an evaluation of the effectiveness of a multi-implementation strategy (education, audit and feedback, and the use of champions) to support practice change.

This review summarizes the pathophysiology of hypertriglyceridemia (HTG) and describes the evidence for dietary interventions in the management of HTG.

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 recapitulates key features of AD and reveals sex-dependent differences in disease manifestation within the model. Immunization with peptides derived from the adrenal self-antigen CYP11A1 induces corticosterone insufficiency. We show that autoimmune adrenalitis is driven by IFNG produced by self-reactive CD4+ T cells, promoting granulomatous inflammation in the adrenal cortex. Together, these findings identify IFNG as a central effector of autoimmune adrenalitis and suggest that targeting the IFNG pathway may represent a potential therapeutic strategy for AD.

Primary adrenal insufficiency (Addison's disease) is a potentially life-threatening disorder most commonly caused by autoimmune adrenalitis, though rare etiologies such as infiltrative malignancies must be considered, particularly when bilateral adrenal involvement leads to clinical manifestations. Diffuse large B-cell lymphoma (DLBCL), an aggressive subtype of non-Hodgkin lymphoma, may rarely involve the adrenal glands and precipitate adrenal crisis. We report a 58-year-old male patient who presented with giddiness, vomiting, fatigability, hyperpigmentation, weight loss, and hypotension. Laboratory evaluation revealed hyponatremia, bicytopenia, and markedly elevated adrenocorticotropic hormone (ACTH) levels, consistent with primary adrenal insufficiency. Imaging demonstrated bilateral adrenal masses with intra-abdominal lymphadenopathy, and histopathological examination of adrenal biopsy confirmed DLBCL. The patient was promptly treated with intravenous corticosteroids, resulting in hemodynamic stabilization while undergoing regular antidiabetic therapy. The patient was later referred to oncology for further management. This case highlights a rare presentation of DLBCL manifesting as Addisonian crisis due to bilateral adrenal infiltration. Given the nonspecific clinical features that often delay diagnosis, clinicians should maintain a high index of suspicion for malignant causes in patients presenting with adrenal insufficiency and bilateral adrenal masses, as early recognition and timely corticosteroid therapy are critical for improving outcomes.

100 years ago in the U.S., tuberculosis was the most common cause of primary adrenal insufficiency (AI) (Addison's disease). Autoimmune adrenalitis is now responsible for 80-90% of AI in this country and Europe; nevertheless today, in the U.S. and certainly abroad, diverse infections can involve the adrenals in both the immunocompetent and immunocompromised and potentially produce AI. Such infections range widely: bacterial (e.g., Mycobacterium tuberculosis, in particular), fungal (e.g., histoplasmosis), viral and even protozoal (e.g., severe Plasmodium falciparum malaria). Suspecting AI, especially if chronic, is not straightforward, delays in AI diagnosis may reach > 6 months in 50%, and 50-75% of patients initially present in overt adrenal crisis. Diagnosing adrenal involvement by an infection may be drawn out, typically requires careful imaging, a thorough infectious disease evaluation, and may require adrenal biopsy.