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Perioral pigmentation is a commonly encountered condition in the skin Out Patient Department (OPD), occurring due to a variety of primary as well as secondary causes. The affection of the perioral skin being readily visible negatively impacts the patient's quality of life. As the etiology of perioral pigmentation is multifactorial, treatment modalities vary according to the cause. The perioral skin, because of its location close to the mouth, is exposed to various allergens associated with food, saliva, toothpaste, cosmetics, etc., which can all lead to allergic manifestations resolving with pigmentation. Certain other dermatoses like melasma can first present with pigmentation over the perioral region. Infections like chikungunya and dengue and infestation with Demodex mite can also lead to pigmentation at this site. Perioral pigmentation can also be a marker of underlying systemic disease. Localized lentigines-like pigmentation can be associated with various cancer predisposition syndromes like Peutz-Jeghers syndrome. Diffuse pigmentation can occur due to Addison disease, vitamin deficiencies, or can be drug-induced. All these causes of pigmentation are seen more commonly in type IV and V skin. Currently, very little literature is available elucidating the cause of perioral pigmentation and the diagnostic approach. This article reviews the causes of perioral pigmentation and highlights their important features. [ABSTRACT FROM AUTHOR]

Aims: Autoimmune polyglandular syndrome type I (APS‐I) is a rare condition of autosomal recessive and monogenic inheritance, which is characterized clinically by at least two signs of the classic triad: mucocutaneous candidosis, hypoparathyroidism, and Addison's disease. This study aims to report the oral manifestations of APS‐I in a 42‐year‐old woman, who attended the Special Care Dentistry Center. Methods and results: The patient presented with hypoparathyroidism, diabetes mellitus, and autoimmune hepatitis. Chronic hyperplastic candidosis (CHC) was the main oral manifestation and it was diagnosed based on clinical and cytologic characteristics. Microstomia, angular cheilitis, xerostomia, enamel hypoplasia, and microdontia were also present. Conclusions: CHC was treated with topical nystatin and oral fluconazole, resulting in a significant improvement of the lesions. [ABSTRACT FROM AUTHOR]

Backgrounds. Africa comprises 54 countries with varying degrees of economic development. As with other healthcare systems, rare diseases such as adrenal insufficiency are neglected and poorly documented. Objectives. We wished to explore primary adrenal insufficiency (PAI) in Africa, its prevalence, aetiology, genetics, presentation, diagnosis, and treatment and to determine the unmet needs in clinical care, education, and research. Materials and Methods. A narrative nonsystematic review of the literature was undertaken. We searched two online databases (PubMed and Google scholar) using the search terms "Addison's disease/PAI, primary adrenal insufficiency coupled with "Africa," "country names," and "genetic disorders." A total of 184 PAI records were reviewed. The exclusion of abstracts, conference proceedings, single case reports, and duplicate studies covering the same subject matter yielded 124 articles, of which 97 informed the final manuscript. Results. A wide range of aetiology of PAI was encountered, but their true prevalence is unknown. Aetiology varied with region and age of presentation as reflected by predominantly TB, HIV, and infective causes occurring in sub-Saharan Africa and more congenital forms described in North Africa associated with consanguinity. In Africa, the diagnostic criteria for PAI do not universally accord with conventional criteria, and there is a heavy reliance on clinical suspicion and biochemistry, including random cortisol of <400 nmol/L, rather than the tetracosactide test where stimulated cortisol <500–550 nmol/L confirms the diagnosis. Conclusions. A high index of suspicion is warranted to diagnose PAI in resource-limited settings, especially where tetracosactide tests are not universally available. [ABSTRACT FROM AUTHOR]

Objective This study aimed to investigate the ability of the immune system assessment questionnaire (ISAQ) to predict adrenal crisis (AC) and infectious events in patients with primary adrenal insufficiency (PAI). Design This was a prospective single-centre study over three years. Methods Patients answered the ISAQ at baseline and were seen every 4–6 months in the endocrine outpatient clinic. At each visit previous infectious periods which required an increase in daily glucocorticoid dosage and AC were reported and documented. Seventy-five patients with PAI (53 women; 43 patients with autoimmune PAI, 20 patients with salt-wasting congenital adrenal hyperplasia and 12 patients who underwent bilateral adrenalectomy) were analysed. Due to the COVID-19 pandemic and consecutive lockdown measures, the data were analysed separately for March 2018 to March 2020 (period 1), and March 2020 to March 2021 (period 2). Results During period 1 the ISAQ score significantly correlated with the number of reported infectious events (r=0.351; p<0.01), but not during period 2 (r=0.059, p=0.613), in which the number of infectious events per patient-year significantly decreased (1.1±0.1 vs 0.4±0.1; p<0.001). The frequency of AC decreased from 8.8 to 2.4 per 100 patient-years between the two study periods. The ISAQ score was not different between patients with or without AC. Conclusions The ISAQ score does not identify patients prone to ACs. The COVID-19 pandemic and consecutive lockdown measures significantly diminished the frequency of infectious events and ACs. [ABSTRACT FROM AUTHOR]

Background: Adrenal hemorrhage (AH) is a rare condition that can result in a life-threatening medical emergency. This medical condition could be caused by several underlying factors, one of which is the use of anticoagulants. As far as we are aware, direct oral anticoagulant (DOAC) agents are a rare but possible cause of AH. Case presentation: Herein, we described two cases of AH due to DOACs. The first case was a 35-year-old Iranian woman with a past medical history of Hashimoto thyroiditis who was being treated with apixaban due to the previous thrombosis. Her first symptoms of AH (November 2021) were strangely similar to symptoms of autoimmune Addison disease (AAD) which led to a confirmed diagnosis of autoimmune polyendocrine syndrome type 2 (APS-2). An abdominal MRI revealed an oval shape well-encapsulated cystic mass with a diameter of 20 × 14 mm with a thick and low signal intensity rim in the left adrenal gland, highly suggestive of sub-acute left-sided AH. Our second case was an 89-year-old Iranian woman who had been admitted to the hospital (August 2021) with low blood pressure and disorientation. At the beginning of her admission, the evaluation showed hyponatremia, and further evaluations confirmed adrenal insufficiency (AI). The patient reported rivaroxaban usage for deep vein thrombosis prophylaxis after femur fixation surgery. Her abdominal CT scans showed bilateral adrenal masses highly suggestive of AH. Her follow-up examination showed persistent AI after three months. Conclusion: Given the history of our cases, physicians should be aware of AH in patients receiving DOACs, particularly in elderly patients who are at high risk of bleeding. It is also worth noting that AH can occur in any patient with any medical history and history of DOAC use, which is why patients must be closely monitored. [ABSTRACT FROM AUTHOR]

Background: Achalasia is a rare esophageal motility disorder of uncertain etiology. While past studies have indicated that autoimmune conditions and viral infections may be associated with development of achalasia, these associations are yet to be examined in large, population‐based studies. Methods: A matched case‐control study was performed using administrative claim data from the IBM MarketScan Commercial Claims and Encounters Database between 2000 and 2019. A history of selected autoimmune conditions and viral infections was assessed using past medical claims. Multivariable conditional logistic regression was used to account for the matched nature of the study design and further control for confounding by demographic and clinical characteristics when reporting adjusted odds ratios (aORs). Key Results: Among 6769 cases and 27,076 controls, presence of any of the autoimmune conditions studied was associated with increased odds of achalasia (aOR = 1.26, 95% CI: 1.11, 1.42). Scleroderma or systemic sclerosis (aOR = 8.13, 95% CI: 3.34, 19.80) and Addison's disease (aOR = 3.83, 95% CI: 1.83, 8.04) had the strongest associations with achalasia. Presence of any of the viral infections studied was also associated with an increased risk of achalasia (aOR = 1.58, 95% CI: 1.23, 2.01). Varicella zoster virus (aOR = 3.84, 95% CI: 1.94, 7.62) and human papillomavirus (aOR = 1.77, 95% CI: 1.15, 2.73) both had strong relationships with achalasia. Conclusions and Inferences: These findings suggest that achalasia may have autoimmune and viral components contributing to its etiology. Future mechanistic studies could target specific diseases and agents highlighted by this research. [ABSTRACT FROM AUTHOR]

Background: Autoimmunity accounts for 90% of cases of primary adrenal insufficiency (Addison disease (AD)). Affected people present a significant co‐occurrence of autoimmune conditions; hence, clustering of autoimmunity is also predicted among their relatives. Aims: To evaluate the burden of autoimmunity in families of people with AD. Methods: A total of 116 individuals with AD was surveyed regarding the occurrence of 23 autoimmune diseases among their relatives. Results: A total of 74.1% of persons with AD reported at least one relative with an autoimmune disorder – 257 cases were diagnosed in 221 relatives. Hashimoto thyroiditis was found in 100 individuals, followed by Graves disease and vitiligo, in 25 and 24 relatives respectively. Type 1 diabetes was diagnosed in 23 relatives, psoriasis in 15, rheumatoid arthritis in 12, pernicious anaemia in 11, multiple sclerosis in 8, and premature menopause in 8 women. AD was found in seven relatives, alopecia in six and celiac disease in five. Other conditions were rare. Significant correlation was noticed between the number of autoimmune conditions in AD proband and the number of affected relatives (P = 0.031). A total of 66.4% of people with AD had a first‐degree relative suffering from autoimmunity. Autoimmune conditions were more frequent among females: sisters (P < 0.001), mothers (P = 0.002) and grandmothers (P = 0.002). Conclusions: Considerable prevalence of autoimmune conditions in relatives of people with AD confirms substantial risk of autoimmunity, especially in females and relatives of patients affected by multiplex autoimmunity. Our data corroborate the recommendation of active screening for autoimmune disorders, particularly thyroid disease, among AD family members. [ABSTRACT FROM AUTHOR]

Autoimmune Addison disease is an endocrinopathy that is fatal if not diagnosed and treated in a timely manner. Its rarity has hampered unbiased studies of the predisposing genetic factors. A 2021 genome-wide association study, explaining up to 40% of the genetic susceptibility, has revealed new disease loci and reproduced some of the previously reported associations, while failing to reproduce others. Credible risk loci from both candidate gene and genome-wide studies indicate that, like one of its most common comorbidities, type 1 diabetes mellitus, Addison disease is primarily caused by aberrant T cell behaviour. Here, we review the current understanding of the genetics of autoimmune Addison disease and its position in the wider field of autoimmune disorders. The mechanisms that could underlie the effects on the adrenal cortex are also discussed. [ABSTRACT FROM AUTHOR]

Background: Seizures due to an underlying metabolic abnormality form an important subset of acute symptomatic seizures in that they are treatable and do not require long-term anticonvulsants. The objective of this study is to determine the clinical and etiological profile of children with metabolic seizures. Materials and Methods: A prospective observational study done in children admitted with acute symptomatic seizures who had an underlying metabolic abnormality as the cause of seizures from January 2018 to December 2019 in a tertiary care hospital of South India. Demographic and clinical parameters were noted and relevant investigations including biochemical, neuro imaging, cerebro spinal fluid analysis, electro encephalography were carried out accordingly. Results: Among 1256 children admitted with new onset seizures, 408 (32.5%) had acute symptomatic seizures exclusive of febrile seizures and unprovoked seizures, of which 46 (3.7%) were found to have an underlying metabolic abnormality and were analyzed. The ratio of male to female was 1.4:1 and the peak age was infancy, accounting for 62.5%. The leading causes of metabolic seizures included hypocalcemia in 28 (60.9%), hypoglycemia in 16 (34.8%), and hyponatremia in 2 (4.3%). Vitamin D deficiency in 21(75%) was found to be the commonest cause for hypocalcemia, followed by hypomagnesemia, hypoparathyroidism, osteopetrosis, and renal failure. The various causes of hypoglycemia were Addisons disease in 6(37.5%), hyperinsulinemic hypoglycemia, idiopathic ketotic hypoglycemia, glycogen storage disorder, and fatty acid oxidation defect, congenital adrenal hyperplasia, and Laron syndrome. Both children with hyponatremia were diagnosed as congenital adrenal hyperplasia. Conclusion: Metabolic seizures accounted for 3.7% of new onset seizures and 11.3% of acute symptomatic seizures in our study. Hypocalcemia (60.9%) was found to be the commonest cause of metabolic seizures in children with the majority due to vitamin D deficiency (75%). Addison's disease (37.5%) was found to be the common cause for hypoglycemia. It is reasonable to estimate serum calcium, magnesium, electrolytes, and glucose in all children presenting with new onset seizures. [ABSTRACT FROM AUTHOR]

Abstract Background Desoxycorticosterone pivalate (DOCP) is a commonly used mineralocorticoid replacement for dogs with primary hypoadrenocorticism (HA), but manufacturer‐recommended dosing protocols can be cost‐prohibitive. Recent reports also have raised concerns that label dose protocols could be excessive. Objective To investigate the relative efficacy and adverse effects of 2 DOCP dosages in dogs with primary glucocorticoid and mineralocorticoid deficient HA. Animals Thirty‐seven dogs, including 19 test population dogs and 18 controls. Methods Randomized controlled double‐blinded clinical trial. Dogs with newly diagnosed primary HA were assigned to standard (2.2 mg/kg q30d, control population) or low‐dose (1.1 mg/kg q30d, test population) DOCP treatment. Clinical and laboratory variables were assessed 10 to 14 days and approximately 30 days after each DOCP treatment for 90 days. Results Mean serum sodium to potassium ratios at reevaluations were ≥32 in both populations throughout the study. No dog developed electrolyte abnormalities warranting medical treatment, although hypokalemia occurred on at least 1 occasion in 9 controls and 6 test population dogs. Urine specific gravities (median, interquartile range) were lower in control dogs (1.022, 1.016‐1.029) as compared to test population dogs (1.033, 1.023‐1.039; P = .006). Plasma renin activity was overly suppressed on 84 of 104 (80.8%) assessments in control dogs whereas increased renin activity occurred on 23 of 112 (20.5%) assessments in test population dogs. Conclusions and Clinical Importance Low‐dose DOCP protocols appear to be safe and effective for treatment of HA in most dogs. Standard‐dose protocols are more likely to result in biochemical evidence of overtreatment.

Background: Schmidt’s syndrome (SS) is a rare endocrine disorder (14-20:1000000), which consists of autoimmune thyroiditis (AIT) and autoimmune Addison’s disease (aAD), and usually occurs in young adults. Here, we report a unique case of late-onset SS manifesting initially with isolated severe hyponatremia and present the hazardous outcomes of preliminary misdiagnosis. Case Presentation: A 78-year-old female presented to the emergency department with a two-day history of diarrhea, emesis and disturbances in consciousness. She also reported general fatigue and increasing weakness in the last month. Urgent laboratory findings revealed isolated severe hyponatremia (serum sodium=108 mmol/l) and initial treatment with active sodium infusions was started, although with no improvement in the patientchr('39')s neurological status after 5 days (serum sodium=127 mmol/l). Meanwhile, the patient developed recurring episodes of hypoglycemia and symptoms portending adrenal crisis (blood pressure=105/58 mmHg, heart rate=96 bpm, severe whole-body muscle pain, two loose stools), which required immediate i.e. hydrocortisone treatment. Reduced blood cortisol, elevated adrenocorticotropic hormone (ACTH) and atrophic morphology of the adrenal glands in computed tomography imaging contributed to the final diagnosis of aAD and SS consequently, since the patient had a past medical history of AIT. Conclusion: Isolated severe hyponatremia should not be underestimated as the first sign of aAD. Appropriate cause-specific treatment is crucial in managing hyponatremia.

Background: Recurrent pneumonia is defined as at least two episodes of pneumonia in a year or three episodes during a lifetime, with clinical and radiological improvement in between. Clinical Description: A 5-year and 8-month-old boy presented with a history of three episodes of fever and fast breathing of variable duration over 8 months. In between, he had a persistent moist cough with intermittent fever, weight loss, and darkening pigmentation. He had three prior admissions for the same, with X-rays showing multilobar pneumonia. Routine investigations were normal. Tuberculosis workup was negative. Computerized tomography showed changes in consolidation without any evidence of structural abnormality. The child became asymptomatic with short courses of antibiotics and nebulization during these admissions. He was referred to us for further evaluation, and we reviewed his history, examination, and medical records. Management: The darkened complexion was suggestive of Addisonian pigmentation, but serum electrolytes were normal. However, very low levels of morning cortisol and high adrenocorticotrophic hormone were suggestive of adrenal insufficiency. Retrospective history revealed dysphagia with nocturnal cough suggesting aspiration. Barium swallow confirmed achalasia by the presence of a dilated esophagus with distal narrowing. The clinical phenotype was suggestive of Triple A (AAA) syndrome with Addison's disease, alacrimia, and achalasia. A positive Schirmer's test confirmed alacrimia and established the clinical diagnosis. He was started on replacement hydrocortisone and later taken up for Laparoscopic Heller Myotomy with fundoplication. On follow-up, his appetite improved, his cough subsided, he had adequate weight gain, and the pigmentation had decreased. Conclusion: Achalasia should be considered a differential in recurrent pneumonia. AAA syndrome has isolated glucocorticoid deficiency. Therefore, hyperpigmentation in the presence of normal electrolytes should not preclude considering the possibility of adrenal insufficiency.

COVID-19 (corona virus disease 2019), caused by the severe acute respiratory syndrome (SARS) coronavirus 2 (SARS-CoV-2), has spread throughout the globe and affected millions of people worldwide. Here, we report a patient with autoimmune polyglandular syndrome type 2 who presented with adrenal crisis, precipitated by COVID-19. We intend to highlight the importance of stress dosing in preventing adrenal crisis in patients with adrenal insufficiency (AI). A uniform structured education programme is needed to improve knowledge and practices in patients with AI in our country.

Introduction and purpose Addison's syndrome is defined as primary adrenal insufficiency, the symptoms of which result from hormonal deficiencies: glucocorticosteroids, mineralocorticosteroids and androgens. Currently, autoimmunity is considered the most common cause of Addison's Syndrome. Antibodies are most often directed against the enzymes 21-hydroxylase and 17-hydroxylase involved in steroidogenesis. The aim of the study is to present a typical clinical course, diagnostic path and current therapeutic options of Addison's syndrome. Description of the state of knowledge Currently, in developed countries, the number of cases is 100-140 people per million people. Initially, Addison's syndrome runs secretly. The clinical picture is closely correlated with the degree of adrenal cortex destruction. The most common symptoms include hypotonia, weight loss, weakness, salt craving, gastrointestinal disorders, and hyperpigmentation of the skin and mucous membranes. In extreme cases, adrenal crisis may develop, characterized by rapid clinical deterioration with hypotension, fever, vomiting, dehydration, and loss of consciousness. Diagnostics uses the measurement of the concentration of morning cortisol and corticotropin (ACTH) in the blood, and in doubtful situations, additionally a stimulation test using synthetic ACTH. Summary A diagnosis of Addison's syndrome requires end-of-life hormonal substitution. For this purpose, hydrocortisone or prednisone and fludrocortisone are used. In stressful situations, the doses of glucocorticoids should be adequately increased. Patients with adrenal crisis require intensive fluid resuscitation to restore intravascular volume, correct hypoglycemia and electrolyte disturbances, and administer rapidly high doses of hydrocortisone.

The article focuses on a primer by Richard J. Auchus, MD, PhD, on congenital adrenal hyperplasia (CAH) and the challenges in managing the disorder. Topics include the enzymatic deficiencies driving CAH, the risks associated with current glucocorticoid treatments, and ongoing efforts to enhance treatment and improve patient quality of life.

• Reviewed various methods of detecting cortisol including electrochemical, etc. • Electrochemical immunosensing offered high sensitivity and low detection limits. • The review investigates the intricate connection between cortisol and cancer. • In-silico modeling, and machine learning were covered for cortisol detection. • Stress monitoring and healthcare advancement through cortisol detection. Cortisol, a crucial steroid hormone synthesized by the adrenal glands, has diverse impacts on multiple physiological processes, such as metabolism, immune function, and stress management. Disruption in cortisol levels can result in conditions like Cushing's syndrome and Addison's disease. This review provides an in-depth exploration of cortisol, covering its structure, various forms in the body, detection methodologies, and emerging trends in cancer treatment and detection. Various techniques for cortisol detection, including electrochemical, chromatographic, and immunoassay methods were discussed and highlighted for their merits and applications. Electrochemical immunosensing emerges as a promising approach, which offered high sensitivity and low detection limits. Moreover, the review delves into the intricate relationship between cortisol and cancer, emphasizing cortisol's role in cancer progression and treatment outcomes. Lastly, the utilization of biomarkers, in-silico modeling, and machine learning for electrochemical cortisol detection were explored, which showcased innovative strategies for stress monitoring and healthcare advancement. [ABSTRACT FROM AUTHOR]

Human gestation leads to a number of physiological alterations which peak at the development of placentta known for, among many other functions, being a transient but highly potent endocrine organ. Hormonal activity of placenta is marked by its ability to continuously produce and secrete high levels of progesterone. Progesterone guards the well-being of the fetoplacental unit throughout the gestation and one of the proposed mechanisms of this principle involves the development of local and systemic immune tolerance mainly due to impediment of CD4+ lymphocyte activation. However, though these alterations are present and well-established, autoimmunity is not entirely rare and a wide spectrum of diseases can continue, or develop de novo , throughout the gestation or even after the delivery. Up-to-date data supports the existence of a relationship between the clinical course of chosen autoimmune diseases and levels of circulating sex steroids. The most common autoimmune endocrinopathies in pregnant women are Hashimoto's disease, Graves' disease, and, more rarely, primary adrenal insufficiency in the form of Addison's disease. Gestation can influence the clinical course of these endocrinopathies in patients who were diagnosed before conception. Multiple particles, like TSH-receptor stimulating antibodies, thyroid hormones, glucocorticoids, and anti-thyroid medications, can cross the placental barrier and evoke biological action in fetal tissues. Thyroid pathology in the form of postpartum thyroiditis is particularly prevalent in patients with positive anti-thyroperoxidase and anti-thyroglobulin antibodies. Certain populations are more at risk of developing numerous gestational complications and require regular follow-up. In our paper, we would like to address physiological, physiopathological, and clinical aspects of endocrine autoimmunity throughout human gestation, as well as special circumstances to consider in pregnant women. [ABSTRACT FROM AUTHOR]

In human patients with hypoadrenocorticism, a secondary dilated cardiomyopathy is noted that has been reported to resolve with replacement steroid therapy. A similar secondary dilated cardiomyopathy in dogs with hypoadrenocorticism has not been previously described. We present three dogs concurrently diagnosed with hypoadrenocorticism and ventricular dilation with systolic dysfunction. Two dogs were presented with clinical signs consistent with biventricular congestive heart failure and a third dog was presented with signs of acute hypoadrenocorticism without congestive heart failure. All dogs recovered to normal cardiac size and function with therapy. Hypoadrenocorticism should be considered as a differential diagnosis in dogs that present with ventricular dilation and systolic dysfunction if there are other indicators in the clinical and laboratory testing. Additionally, a thorough cardiac evaluation should be recommended for dogs that are found to have a heart murmur at the time of diagnosis of hypoadrenocorticism. [ABSTRACT FROM AUTHOR]

Hypoadrenocorticism is characterized by a reduction in mineralocorticoid and/or glucocorticoid production by the adrenal glands. Several subtypes have been described with different clinical and clinicopathological consequences. Most affected dogs have vague and non-specific signs that precede an eventual life-threatening crisis. This review aims to appraise classification, the available data on epidemiology and the clinical and laboratory features of naturally occurring canine hypoadrenocorticism. Plain English Summary: Canine hypoadrenocorticism is a relatively uncommon endocrine disease that can present with a wide variety of clinical signs resulting from cortisol or aldosterone deficiency or both. Hypoadrenocorticism should be considered in all dogs with severe illness and typical electrolyte abnormalities but also in those with waxing and waning clinical signs. Multiple clinical and laboratory features are suggestive of the disease and should prompt evaluation of adrenal function. The ACTH stimulation test is the best test for diagnosing hypoadrenocorticism but, in those cases without the typical presentation, evaluation of aldosterone secretory capacity and endogenous ACTH concentrations should be performed to distinguish primary from secondary disease. In this review we discuss the pathophysiology of the disease, the clinical signs and laboratory features that should raise suspicion of hypoadrenocorticism and the performance of the different diagnostic tests. [ABSTRACT FROM AUTHOR]

Background. X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal metabolism disorder, resulting from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 (ABCD1) gene. The dysfunction of ALD protein, a peroxisomal ATP-binding cassette transporter, results in the excessive saturated very long-chain fatty acids (VLCFAs) accumulation in organs including the brain, spine, and adrenal cortex. X-ALD is characterized as the childhood, adolescent, adult cerebral ALD, adrenomyeloneuropathy (AMN), adrenal insufficiency, and asymptomatic phenotypes, exhibiting a high variety of clinical neurological manifestations with or without adrenocortical insufficiency. Results. In this study, we reported two cases of X-ALD, which were first diagnosed as adrenal insufficiency (Addison's disease) and treated with adrenocortical supplement. However, both of the cases progressed as neurological symptoms and signs after decades. Elevated VLCFAs level, brain MRI scan, and genetic analysis confirmed final diagnosis. In addition, we identified two novel mutations of ABCD1 gene, NM_000033.3 (ABCD1): c.874_876delGAG (p.Glu292del) and NM_000033.3 (ABCD1): c.96_97delCT (p.Tyr33Profs ∗ 161), in exon 1 of ABCD1 gene. Sanger sequencing confirmed that the proband's mother of the first case was heterozygous carrying the same variant. Adrenal insufficiency-only type is very rare; however, it may be the starting performance of X-ALD. In addition, we summarized reported mutation sites and clinical manifestations to investigate the correlationship of phenotype-genotype of X-ALD. Conclusions. The early warning manifestations should be noticed, and the probability of X-ALD should be considered. This report could be beneficial for the early diagnosis and genetic counseling for patients with X-ALD. [ABSTRACT FROM AUTHOR]

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (AIRE) gene characterized by complex phenotypic characteristics discovered over years of follow-up. Methods: 7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for AIRE R257X mutations. Results: This study group had a mean current age of 25.3 years (age range from 5.4 to 40.2 years), while the mean age at the onset of the disease was 6.5 years (age range from 0.7 to 9.2 years) and with a mean follow-up period of 17.8 years. The overall prevalence of APECED syndrome is estimated to be 1 in 75,000. The most common initial manifestation of the disease was onychodystrophy, while the first major component of APECED syndrome was chronic mucocutaneous candidiasis. Conclusions: APECED is a "multi-faced" disease based on the very unpredictable and inconsistent onset of major components. Furthermore, based on our results, we suggest that onychodystrophy could be included as a warning sign of APECED syndrome. [ABSTRACT FROM AUTHOR]

To describe an atypical presentation of primary adrenal insufficiency in conjunction with new onset type 1 diabetes. Here, we describe a case of new-onset type 1 diabetes (T1D) presenting simultaneously with an unusual presentation of primary adrenal insufficiency in a previously healthy 16-year-old. He was admitted for a typical presentation of diabetic ketoacidosis, but with extreme hyponatremia. An extensive workup revealed a low aldosterone level, appropriate cortisol level, and positive 21-hydroxylase antibodies. While the phenomenon of multiple autoimmune conditions developing in the same patient is well-described, this particular case has several atypical aspects. Our patient's case highlights the danger of relying on random serum cortisol in the setting of acute illness to rule out adrenal insufficiency. Adrenal insufficiency can present as isolated hypoaldosteronism without hypocortisolemia and can manifest as severe hyponatremia in the context of diabetic ketoacidosis. Workup for an unusual presentation of T1D should include a 21-hydroxylase antibody, as well as thyroid and celiac disease studies. [ABSTRACT FROM AUTHOR]

Autoimmune polyendocrine syndromes (APS) include a diverse group of clinical conditions, characterized by functional impairment of many endocrine glands. Type 2 APS is characterized by the mandatory presence of Addison's disease, which may be associated with either autoimmune thyroid diseases as a Schmidt's syndrome or type 1 diabetes mellitus as a Carpenter syndrome. The described patient with well-controlled diabetes mellitus type 1, presented with sudden, frequent episodes of hypoglycemia, daytime somnolence and weariness, as well as remarkable hyperpigmentation of the skin. Laboratory tests revealed adrenal insufficiency with a positive titer of anti-adrenal antibodies, which led to APS-2 diagnosis in the presented case. As the clinical outcome at the early onset of the APS-2 is not distinctive, the authors would like to emphasize the significance of screening methods, especially in patients with other hormone abnormalities, to protect them from the consequences of life-threatening disturbances. [ABSTRACT FROM AUTHOR]

Context Adrenal insufficiency (AI) is an uncommon, life-threatening disorder requiring lifelong treatment with steroid therapy and special attention to prevent adrenal crisis. Little is known about the prevalence of AI in Canada or healthcare utilization rates by these patients. Objective We aimed to assess the prevalence and healthcare burden of AI in Alberta, Canada. Methods This study used a population-based, retrospective administrative health data approach to identify patients with a diagnosis of AI over a 5-year period and evaluated emergency and outpatient healthcare utilization rates, steroid dispense records, and visit reasons. Results The period prevalence of AI was 839 per million adults. Patients made an average of 2.3 and 17.8 visits per year in the emergency department and outpatient settings, respectively. This was 3 to 4 times as frequent as the average Albertan, and only 5% were coded as visits for AI. The majority of patients were dispensed glucocorticoid medications only. Conclusion The prevalence of AI in Alberta is higher than published data in other locations. The frequency of visits suggests a significant healthcare burden and emphasizes the need for a strong understanding of this condition across all clinical settings. Our most concerning finding is that 94.3% of visits were not labeled with AI, even though many of the top presenting complaints were consistent with adrenal crisis. Several data limitations were discovered that suggest improvements in the standardization of data submission and coding can expand the yield of future studies using this method. [ABSTRACT FROM AUTHOR]

Abstract Background Primary adrenal insufficiency (Addison's disease) is a rare medical condition usually associated with hyperkalemia or normokalemia. We report a rare case of Addison's disease, coexisting with hypokalemia, requiring treatment. Case presentation In this case, a 42-year-old man was admitted to the intensive care unit with a history of loss of consciousness and severe hypoglycemia. His blood tests showed metabolic acidosis, low concentrations of cortisol 6 nmol/L (normal 68–327 nmol/L), and high plasma adrenocorticotropic hormone 253 pmol/L (normal 1.6–13.9 pmol/L), and he was diagnosed with primary adrenal insufficiency. Surprisingly, his serum potassium was low, 2.3 mmol/L (normal 3.5–5.1 mmol/L), requiring replacement over the course of his admission. Computed tomography scan of the adrenal glands showed features suggestive of unilateral adrenal tuberculosis. Investigations confirmed renal tubulopathy. The patient responded favorably to cortisol replacement, but never required fludrocortisone. Conclusions Coexistence of hypokalemia with Addison’s disease is unusual. We recommend investigation of the cause of hypokalemia in its own right, if it occurs with primary adrenal insufficiency.

Human gestation leads to a number of physiological alterations which peak at the development of placentta known for, among many other functions, being a transient but highly potent endocrine organ. Hormonal activity of placenta is marked by its ability to continuously produce and secrete high levels of progesterone. Progesterone guards the well-being of the fetoplacental unit throughout the gestation and one of the proposed mechanisms of this principle involves the development of local and systemic immune tolerance mainly due to impediment of CD4+ lymphocyte activation. However, though these alterations are present and well-established, autoimmunity is not entirely rare and a wide spectrum of diseases can continue, or develop de novo, throughout the gestation or even after the delivery. Up-to-date data supports the existence of a relationship between the clinical course of chosen autoimmune diseases and levels of circulating sex steroids.The most common autoimmune endocrinopathies in pregnant women are Hashimoto’s disease, Graves’ disease, and, more rarely, primary adrenal insufficiency in the form of Addison’s disease. Gestation can influence the clinical course of these endocrinopathies in patients who were diagnosed before conception. Multiple particles, like TSH-receptor stimulating antibodies, thyroid hormones, glucocorticoids, and anti-thyroid medications, can cross the placental barrier and evoke biological action in fetal tissues. Thyroid pathology in the form of postpartum thyroiditis is particularly prevalent in patients with positive anti-thyroperoxidase and anti-thyroglobulin antibodies. Certain populations are more at risk of developing numerous gestational complications and require regular follow-up. In our paper, we would like to address physiological, physiopathological, and clinical aspects of endocrine autoimmunity throughout human gestation, as well as special circumstances to consider in pregnant women.

Background: Resting cortisol concentrations are routinely measured in dogs with chronic gastrointestinal signs to rule out hypoadrenocorticism based on a concentration >2 μg/dL (>55 nmol/L). Hypothesis/Objectives: To assess the cross‐sectional prevalence of hypoadrenocorticism in a group of dogs with chronic gastrointestinal signs presented to a referral internal medicine service. Animals: Two‐hundred and eighty‐two client‐owned dogs with chronic gastrointestinal signs and with resting cortisol concentration testing performed. Methods: Retrospective review of medical records (final diagnosis, resting cortisol concentration, and adenocorticotropic hormone [ACTH] stimulation test results) of a referral population of dogs between May 2013 and September 2017. Results: Resting cortisol concentration was <2 μg/dL (<55 nmol/L) in 79 patients (28%). Repeated resting cortisol concentration measurements were performed in 28 dogs, and in 8, resting cortisol concentrations remained <2 μg/dL (<55 nmol/L). Post‐ACTH cortisol concentration was <2 μg/dL (<55 nmol/L) in 1 dog, consistent with a diagnosis of hypoadrenocorticism and giving a prevalence estimate of hypoadrenocorticism in this population of dogs of 0.3% (95% confidence interval [95CI], 0.03‐1.5%). In 19 dogs with an initial resting cortisol concentration <2 μg/dL (<55 nmol/L), hypoadrenocorticism was excluded based on a repeat resting cortisol concentration >2 μg/dL (>55 nmol/L). Overall, the most common diagnosis was chronic primary inflammatory enteropathy (176/282, 62.4%), followed by extragastrointestinal neoplasia (17/282, 6%), protein‐losing enteropathy, pancreatitis and megaesophagus (10/282, 3.5% each). Conclusions and Clinical Importance: Although dogs with hypoadrenocorticism can present with chronic gastrointestinal signs, it was the final diagnosis in only 1 of 282 dogs presenting to a referral internal medicine service for signs of chronic enteropathy. Repeated resting cortisol concentration may be considered as a test to try and exclude hypoadrenocorticism. [ABSTRACT FROM AUTHOR]

Background: Basal serum cortisol (BSC) ≥2 μg/dL (>55 nmol/L) has high sensitivity but low specificity for hypoadrenocorticism (HA). Objective: To determine whether the urinary corticoid:creatinine ratio (UCCR) can be used to differentiate dogs with HA from healthy dogs and those with diseases mimicking HA (DMHA). Animals: Nineteen healthy dogs, 18 dogs with DMHA, and 10 dogs with HA. Methods: Retrospective study. The UCCR was determined on urine samples from healthy dogs, dogs with DMHA, and dogs with HA. The diagnostic performance of the UCCR was assessed based on receiver operating characteristics (ROC) curves, calculating the area under the ROC curve. Results: The UCCR was significantly lower in dogs with HA (0.65 × 10−6; range, 0.33‐1.22 × 10−6) as compared to healthy dogs (3.38 × 10−6; range, 1.11‐17.32 × 10−6) and those with DMHA (10.28 × 10−6; range, 2.46‐78.65 × 10−6) (P <.0001). There was no overlap between dogs with HA and dogs with DMHA. In contrast, 1 healthy dog had a UCCR value in the range of dogs with HA. The area under the ROC curve was 0.99. A UCCR cut‐off value of <1.4 yielded 100% sensitivity and 97.3% specificity in diagnosing HA. Conclusions and Clinical Importance: The UCCR seems to be a valuable and reliable screening test for HA in dogs. The greatest advantage of this test is the need for only a single urine sample. [ABSTRACT FROM AUTHOR]

Objective: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of this genetic disorder is estimated at 1/90,000-200,000 worldwide and 1/6500-9000 in genetically isolated populations such as Iran. Here, we investigated AIRE gene mutations in eight independent Iranian non-Jewish families.Methods: We sequenced the coding regions of the AIRE gene and documented mutations which were further confirmed in respective parents.Results: In total, 11 cases from 8 independent families were recruited. Mucosal candidiasis, Addison's disease and hypoparathyroidism were the most common clinical manifestations in these patients. One novel homozygous splice acceptor mutation (c.308-1G>C), and one novel heterozygous stop-gain mutation (c.1496delC) combined with a known heterozygous c.232T>C missense mutation were found. Moreover, we observed previously described splice donor (c.1095+2T>A), frameshift (c.967-979del), stop-gain (c.415C>T), and missense (c.62C>T) mutations among the patients. All results were co-segregated in parents.Conclusion: Here, we reported two novel mutations in the AIRE gene leading to APECED. Our data could provide insight into the phenotypic and genotypic spectrum of APECED in the non-Jewish Iranian population. These findings, in addition to future functional assays, can elucidate disease-causing mechanisms related to the AIRE gene and assist in genetic counseling and diagnosis. [ABSTRACT FROM AUTHOR]

Objective: We aimed to (1) examine the diagnosis of opioid‐induced adrenal insufficiency, and (2) investigate the diagnostic value of a morning cortisol <83 nmol/L (3 µg/dl) for the diagnosis of adrenal insufficiency, using newer more specific cortisol assays and cut‐offs. Design: Retrospective study (5/2015–10/2020). Participants: Cohort 1 (N = 75): adults who underwent cosyntropin stimulation testing and opioid exposure for >30 days. Cohort 2 (N = 854): adults, with or without opioid exposure, who had a morning cortisol level measured the same day as stimulation testing. Measurements: Peak cortisol during cosyntropin stimulation testing. Sensitivity and specificity of morning serum cortisol for adrenal insufficiency. Results: The prevalence of adrenal insufficiency in patients with chronic opioid exposure who underwent cosyntropin stimulation testing was 4.0% using a cortisol cutoff of <405 nmol/L (14.7 µg/dl) versus 19% using the traditional cutoff of <500 nmol/L (18.1 µg/dl). For hospitalized patients with and without opioid‐exposure, 14 of 22 (64%) patients with morning cortisol levels of <83 nmol/L (3 µg/dl) passed cosyntropin stimulation testing. A morning cortisol level of <348 nmol/L (12.6 µg/dl) had 100% sensitivity (95% confidence interval: 84.5%–100%) for the diagnosis of adrenal insufficiency. Conclusion: Applying a cutoff of <405 nmol/L (14.7 µg/dl), opioid‐induced adrenal insufficiency is rare. Nearly 1 out of 6 patients would be reclassified as having adrenal insufficiency applying the guideline‐recommended cutoff of <500 nmol/L (18.1 µg/dl). Serum morning cortisol <83 nmol/L (3 µg/dl) is not a valid diagnostic test for adrenal insufficiency in hospitalized patients, whether or not receiving opioids. [ABSTRACT FROM AUTHOR]

Sunitinib is a tyrosine kinase inhibitor that is frequently used in the treatment of metastatic renal cell carcinoma (mRCC). As a multikinase inhibitor, numerous off-target side effects of this medication are widely recognized. More recently, endocrine side effects, including hypoadrenalism, are becoming more apparent. We report a case in which a 71-year-old female experienced recurrent adrenal crises when managed with sunitinib for mRCC on a background of immune-related hypopituitarism and hypoadrenalism as a result of previous treatment with immunotherapy. Clinicians should be aware of this potential toxicity when using such medications and consider further investigation in the appropriate clinical setting. [ABSTRACT FROM AUTHOR]

Aims and Objectives: Clinical, biochemical, and radiological profiles of Addison's disease and to assess the various etiological spectrum of primary adrenal insufficiency (PAI) in adults. Materials and Methods: A retrospective cohort study was carried out in the Department of Endocrinology, Madurai Medical College, Madurai between January 2014 and January 2021 over a 7-year period. Inclusion Criteria: All the patients with clinical symptoms and or signs of suspected PAI, such as hyperpigmentation, weight loss, persistent nausea or vomiting, fatigue, and hypotension, were recruited. All suspected cases underwent measurement of 8-AM plasma ACTH and cortisol levels. In possible cases and equivocal cortisol levels, patients underwent Co-syntropin/ACTH stimulation test. To know the underlying etiology of PAI, 21-hydroxylase autoantibodies (21OHAb), thyroid function test, Anti TPO, calcium, parathyroid hormone (PTH), LH and FSH, CT of chest and abdomen, and sputum AFB based on the clinical pattern of involvement were performed. Exclusion Criteria: Patients with onset of PAI at infancy and childhood, secondary adrenal insufficiency or exogenous Cushing's syndrome, and central hypocortisolism, including Sheehan's syndrome, were excluded. Results: Thirty-six patients were diagnosed with PAI in this study; 19 (53%) were females and 17 were males (47%). The median age of diagnosis was 35 years. Patients were divided into acute presentation and subacute presentation. Twenty-six patients presented with acute presentation and ten were presented with progressive evolved symptoms. Non-tuberculous etiology was the predominant finding noted in our cohort study (87%, 31 out of 36 patients). The other causes of Addison disease included isolated auto-immune PAI, polyglandular autoimmune syndrome type 1 and II, APLA Syndrome, and adrenal metastasis. Conclusion: Non-tuberculous causes of PAI are the leading etiology in our retrospective study. Autoimmune PAI and Polyglandular autoimmune syndromes are increasingly being recognized as the cause of Addison's disease. PAI individuals require lifelong surveillance for possible development of coexisting autoimmune syndromes and need for glucocorticoid/mineralocorticoid therapy. [ABSTRACT FROM AUTHOR]

Abstract Background Primary hypoadrenocorticism (or Addison’s disease, AD) is an autoimmune disease that results in destruction of the adrenal cortex and consequent adrenal insufficiency. The disease has been described in purebred and mixed breed dogs, although some breeds, including the Bearded Collie, are at increased risk for AD. Candidate gene approaches have yielded few associations that appear to be breed-specific. A single other genome-wide association study reported no significant regions of association for AD in Standard Poodles. The present study aimed to identify genomic regions of association for canine AD in Bearded Collies. Results Our study consists of the first genome-wide association analysis to identify a genome-wide significant region of association with canine AD (CFA18). Peaks of suggestive association were also noted on chromosomes 11, 16 and 29. Logistic regression analysis supported an additive effect of risk genotypes at these smaller effect loci on the probability of disease associated with carrying a risk genotype on CFA18. Potential candidate genes involved in adrenal steroidogenesis, regulation of immune responses and/or inflammation were identified within the associated regions of chromosomes 11 and 16. The gene-poor regions of chromosomes 18 and 29 may, however, harbor regulatory sequences that can modulate gene expression and contribute to disease susceptibility. Conclusion Our findings support the polygenic and complex nature of canine AD and identified a strongly associated locus on CFA18 that, when combined with three other smaller effect loci, was predictive of disease. The results offer progress in the identification of susceptibility loci for canine AD in the Bearded Collie. Further studies are needed to confirm association with the suggested candidate genes and identify actual causative mutations involved with AD susceptibility in this breed.

Gravess disease is a common part of Autoimmune polyglandular syndrome (APS) and among thyroid autoimmune disorders is usually preceded the onset of the syndrome. Aim.The aim of this study was to determine the frequency of occurrence of APS type 2, 3 among patients with Graves disease. Materials and methods.Sera of 94 patients with Gravess disease, 116 patients with APS 24 types and 80 healthy subjects were screened for 21-OH Ab, insulin-Ab (IAA), Islet Cell-Ab (ICA), glutamic acid decarboxylase-Ab (GADA), protein tyrosine phosphatase-Ab (IA2), Zinc Transporter 8-Ab (ZnT8), Anti-gliadin-Ab (IgA+IgG) (AGA), Anti-transglutaminase-Ab (IgA+IgG) (Anti-tTG), Anti-parietal cell-Ab (APCA), Intrinsic Factor-Ab (IF), Rheumatoid factor (RF), Anti Ovarian Antibodies (AOA). Serum cortisol, fasting plasma glucose levels were measured. Results.The presence of Addisons disease and the onset of Type 1 DM was not determined among Graves disease patients. None of the patients with Graves disease and in the healthy control group had 21-OH-antibodies detected. The frequency of 21-OH-Ab was 4.2% in APS type 3 (p=0.07) and 91.6% in APS type 2, 4 (p0.001). The prevalence of diabetes-associated autoantibodies was 20.2% among Gravess disease patients against 8.75% in healthy subjects control group (p0.05); OR 2.64; 95% CI 1.056.66 and 30.2% in APS of adults (DM 1 negative group) (p=0.18). The prevalence of APCA-markers of autoimmune gastritis was 31.9% in Gravess disease, 48.3% in APS 24 types (p=0.01); OR 1.99; 95% CI 1.183.51, and 12.5% in control group (p0.01); OR 3.28; 95% CI 1.497.24. There were no significant differences in the frequency of occurrence of IF-Ab and RF-Ab in the groups. The frequency of AGA and ATA was 28.7% in Graves disease, 36.2% in APS types 24 (p=0.3), 10% in the control group ((р0.01); OR 3.63; 95% CI 1.548.54. Graves disease patients with risk of developing APS type 3 (positive diabetes-associated and other autoantibodies) had relatives with autoimmune diseases in 57.5% of cases (p=0.05); OR 2.18; 95% CI 1.034.63. Conclusion.Graves disease patients are at high risk for future development of APS 3 type, especially those with inheritance for autoimmune diseases. Screening for the immunological markers, pathognomonic for coexisting autoimmune diseases in such patients with Graves disease, as well as in patients with APS type 3, should be done regularly.

We report the case of a 23-year-old male, natural and resident of height, with hyperpigmentation. Asthenia, fatigue, nausea, vomiting, weight loss, abdominal pain, hiporexia and hypotension, with decreased cortisol dosage and elevated ACTH. Normal chest X-Ray, smear in sputum and negative urine. Negative TB-LAM Antigen. In contrasted abdomen computed tomography, an increase in dimensions and small calcifications is shown in both adrenals suggestive of specific type granulomatous infiltration. In endemic areas of tuberculosis as in Peru, in the absence of the adrenal biopsy, it can be used early, as a diagnostic alternative to the tomography to rule out the adrenal commitment. In conclusion, this report described as the tomography can be used as an alternative diagnostic method in hospitals where it is not feasible to perform the biopsy in a rapid manner.

Abstract Background Dogs with hypoadrenocorticism (HA) frequently show signs of gastrointestinal disease (SGD). The prevalence of dogs presented for chronic SGD with HA is unknown. Objectives The aims of this study were to determine the prevalence of HA in dogs with chronic SGD and to identify clinical and laboratory variables for HA in this population. Animals One hundred fifty‐one dogs with chronic SGD. Methods In this multicentered prevalence study a standardized workup was performed in prospectively enrolled dogs with SGD > 3 weeks duration. Basal serum cortisol concentration was measured in every dog with ACTH stimulation test (ACTHST) if basal serum cortisol concentration was

Autoimmune polyglandular syndromes are combinations of various endocrine and nonendocrine autoimmune diseases, as well as the presence of elevated organ-specific antibody titers. We present a clinical case of a 41-year-old pregnant patient with type 2 autoimmune polyglandular syndrome, combining Addison’s disease, Hashimoto’s thyroiditis and hypogonadism. The pregnancy was achieved after the use of assisted reproductive technology. During the pregnancy the patient was strictly monitored. Glucocorticoid and mineralocor­ticoid replacement therapy was adjusted according to the electrolyte profile and general condition of the patient. Management during pregnancy was difficult due to fluctuations in electrolyte levels, thyroid hormones and orthostatic manifestations. Prior to delivery adrenal crisis occurred, but the condition was successfully managed. No complications were reported for the mother and the newborn.

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare monogenic disor- der caused by pathological genetic alterations in the AIRE gene, which encodes a protein autoimmune regulator, which is implicated in the regulation of immune tolerance to autoantigens. Individuals with the APECED syndrome can develop a diverse clinical picture characterised by organ-specific auto- immune manifestations, ectodermal dystrophy and spe- cific immune defects associated with the development of autoantibodies against interferons and interleukins. The diagnosis of APECED should be considered if two out of three main criteria are present: chronic mucocutaneous can- didiasis, hypoparathyroidism and Addison disease. In the article, the case of a patient with this rare syndrome who presented initially with candidal infection of the nails and then with typical manifestations of enamel hypoplasia of the permanent teeth, is described. On the basis of the ecto- dermal presentation, the clinical suspicion of the APECED syndrome was made, even before the clinical signs of Addi- son’s disease appeared. Early diagnosis and treatment pre- vented the development of an Addisonian crisis.

Purpose: Autoimmune Polyendocrinopathy Syndrome (APS) is a rare condition caused by an autoimmune failure of two or more endocrine glands. In this case, we report the ocular findings and correlated histopathology from a human eye donor with a prior clinical history of Type 1 APS. Observations: The 23 year-old patient originally presented with blurred vision at the 20/125 level caused by papilledema of the right eye. Bilateral pigmentary changes in the peripheral retinal were also noted. The patient passed away due to electrolyte abnormalities related to autoimmune illness. Histopathology of the posterior segments documents that these pigmentary changes were caused by pigment deposition around inner retinal vessels with corresponding outer retina atrophy. Postmortem genetic sequence analyses revealed a homozygous R257X (C to T substitution) mutation within exon 6 of the AIRE gene. Conclusions and importance: The retinal findings in Type 1 Autoimmune Polyendocrinopathy Syndrome resemble those observed in individuals with retinitis pigmentosa, suggesting that similar pathological processes occur in both.

Addison's disease was first described by Thomas Addison in 1855. He demonstrated the destruction of bilateral adrenal gland by tuberculosis (TB) in six patients. Since then, the incidence of TB has declined in the Western world, but in developing countries, it is still the most common cause of adrenal insufficiency. Because of the introduction of antituberculous chemotherapy, the incidence of adrenal TB has been declined in the past decades. The most common symptoms are nonspecific; therefore, diagnosis is often delayed, and patients may first present with a life-threatening adrenal crisis. The most commonly identified organism for adrenal failure in adrenal TB is Mycobacterium tuberculosis infection. Adrenal TB involves bilateral adrenal glands more frequently than unilateral glands. Computed tomography (CT) scan and magnetic resonance imaging (MRI) are useful investigations to differentiate between tuberculous Addison's disease and the other causes of adrenal insufficiency. In CT scans or MRI, features of adrenal TB are bilateral adrenal enlargement and peripheral rim enhancement with or without calcifications. Antituberculous drugs, biochemical monitoring of adrenal function, and steroid therapy are essential for the management of adrenal TB and adrenal insufficiency. Here, we describe a case of adrenal TB with abscess formation followed by a review of the current literature of adrenal TB for better diagnosis and management of this condition.