Vitiligo is a dermatological disease characterized by focal disappearance of the melanin pigment on the skin and mucous membranes of a person. Despite the variety of proposed hypotheses for the development of this pathology, the central role belongs to the autoimmune mechanism of melanocyte damage.Analysis of the results of numerous international studies confirms a pronounced tendency towards an increase in the prevalence of endocrine autoimmune diseases among patients with vitiligo compared to the general population. Such diseases include, first of all, autoimmune thyroiditis, Graves' disease, type I diabetes mellitus and autoimmune adrenal insufficiency. Some studies confirm a high frequency of vitiligo combination with multiendocrine autoimmune syndromes.This review is aimed at systematizing the available scientific literature on the frequency of occurrence and characteristics of associated autoimmune endocrine disorders in individuals suffering from vitiligo.

Autoimmune polyglandular syndrome type 2 (APS-2) is a rare autoimmune disorder characterized by the coexistence of primary adrenal insufficiency with autoimmune thyroid disease and/or type 1 diabetes mellitus. Because its initial manifestations are often nonspecific, diagnosis may be substantially delayed until advanced disease or adrenal crisis develops. We report the case of a 28-year-old Portuguese woman living in California who presented with a nine-month history of progressive fatigue, unintentional weight loss, nausea, vomiting, abdominal pain, and a previous syncopal episode. Recognition of diffuse mucocutaneous hyperpigmentation involving the palmar creases and tongue prompted targeted endocrine investigation. Laboratory evaluation confirmed autoimmune primary adrenal insufficiency and autoimmune hypothyroidism, establishing the diagnosis of APS-2. Treatment with intravenous hydrocortisone and fluid resuscitation was followed by levothyroxine and fludrocortisone replacement, resulting in rapid clinical improvement, the normalization of biochemical abnormalities, and complete recovery. This case highlights the diagnostic value of meticulous physical examination in patients presenting with otherwise unexplained constitutional symptoms. Recognition of these characteristic physical findings may facilitate the early diagnosis of autoimmune primary adrenal insufficiency, enabling appropriate hormone replacement before progression to adrenal crisis.

Cytotoxic Lesions of the Corpus Callosum (CLOCCs) are transient splenial lesions typically triggered by infections, trauma, or metabolic disturbances. This report documents a unique case of a 13-year-old girl with CLOCCs secondary to Addison's disease, an association not previously reported. The patient initially presented with lethargy, fever, and hyperpigmentation of the skin and gingiva. Investigations revealed profound hyponatremia (121 mmol/L) and hypoosmolality, while a brain MRI confirmed a cytotoxic lesion in the splenium. Although meningoencephalitis was initially suspected, markedly elevated adrenocorticotropic hormone (ACTH) and low cortisol levels ultimately confirmed primary adrenal insufficiency. The pathogenesis likely involves cytotoxic edema and blood-brain barrier dysfunction driven by severe electrolyte imbalance and hypocortisolism. Following hydrocortisone replacement therapy and gradual sodium correction, the patient achieved a rapid clinical recovery. A follow-up MRI demonstrated complete resolution of the lesion within one week. This case highlights the importance of considering adrenal insufficiency in the differential diagnosis of reversible splenial lesions, particularly when physical signs like hyperpigmentation are present.

To assist clinicians transitioning patients from the hospital through the continuum of their ambulatory oxygen care needs, a multidisciplinary team of clinicians and patients used the Grading of Recommendations, Assessment, Development, and Evaluation methodology to make the following recommendations: (1) We recommend disease management for patients who are transitioning from the hospital to the home or domiciliary care on newly prescribed long-term oxygen therapy (LTOT) (strong recommendation, low certainty); (2) We recommend regular reassessments to determine the appropriateness of LTOT in adults who were recently discharged from the hospital setting (conditional recommendation, moderate certainty); (3) We suggest implementing a discharge coordination program to support the safe transition of adult patients requiring oxygen therapy (conditional recommendation, low certainty); (4) We suggest that assessments of the oxygen setting and device during rest and activity be conducted before the transition of an adult patient from the hospital to home or domiciliary care with an oxygen prescription (conditional recommendation, low certainty); (5) We suggest an evaluation of the domiciliary environment and activities of daily living, including an assessment of the risk of burns related to tobacco smoking or other ignition sources, for adult patients transitioning to home or domiciliary settings with a new oxygen prescription (conditional recommendation, low certainty); (6) We suggest offering peri-discharge education focused on the oxygen prescription to improve understanding and adherence to LTOT (conditional recommendation, low certainty).

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.