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J Clin Endocrinol Metab 2018 Dec 5. Epub 2018 Dec 5.

Molecular Thyroid Research Laboratory, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany.

Context: The Major Histocompatibility Complex (MHC) strongly contributes to the development of polyglandular autoimmunity (PGA).

Objective: To evaluate the impact of gender on human leukocyte antigen (HLA) association with PGA for the first time.

Design: Cross-sectional immunogenetic study. Read More

Cureus 2018 Sep 14;10(9):e3306. Epub 2018 Sep 14.

Medicine, Xavier University School of Medicine, Oranjestad, ABW.

Pernicious anemia (also known as Biermer's disease) is an autoimmune atrophic gastritis which predominantly affects the fundus of the stomach. It results in a deficiency of vitamin B12 (cobalamin) as it affects the normal process of absorption in the ileum. The pernicious anemia is characterized by a wide range of hematological and neurological features. Read More

J Pediatr 2018 Dec;203:391-399.e1

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

Objective: To determine whether multiple daily injections of parathyroid hormone (PTH) 1-34 are safe and effective as long-term therapy for children with hypoparathyroidism.

Study Design: Linear growth, bone accrual, renal function, and mineral homeostasis were studied in a long-term observational study of PTH 1-34 injection therapy in 14 children.

Methods: Subjects were 14 children with hypoparathyroidism attributable to autoimmune polyglandular syndrome type 1 (N = 5, ages 7-12 years) or calcium receptor mutation (N = 9, ages 7-16 years). Read More

Clin Case Rep 2018 Nov 2;6(11):2178-2184. Epub 2018 Oct 2.

Internal Medicine Department, Faculty of Medicine Alexandria University Alexandria Egypt.

The autoimmune polyglandular syndrome is a sequential chain of autoimmune events. Whenever diagnosed, the clinician's target should be induction of remission and if possible hindering its progression especially if associated with refractory vitiligo, resistant Grave's, or unexplained hyperglycemia in T1DM. Azathioprine could be used for induction of remission in autoimmune polyglandular syndrome type three especially with vitiligo and autoimmune thyroiditis. Read More

BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.

Department of Diabetes and Endocrinology, Royal Glamorgan Hospital, Llantrisant, UK.

A 30-year-old woman with polyglandular autoimmune type 2 syndrome was found collapsed at home with a cardiac arrest, which required direct current cardioversion. On admission, she was hypothermic, hypotensive and bradycardic. Initial biochemical investigations were consistent with a pre-renal acute kidney injury, metabolic acidosis and a possible sepsis. Read More

BMJ Case Rep 2018 Oct 27;2018. Epub 2018 Oct 27.

Department of Dermatology, Kawasaki Medical School, Kurashiki, Okayama, Japan.

We experienced a 6-year-old case of drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) with subsequent development autoimmune thyroiditis (Hashimoto's thyroiditis), type 1 diabetes with antithyroglobulin, thyroid peroxidase, insulinoma-associated antigen and anti-insulin antibodies at 4 months, alopecia at 7 months, vitiligo, uveitis due to Vogt-Koyanagi-Harada disease at 8 months after clinical resolution of the DiHS/DRESS. He was diagnosed as type III polyglandular autoimmune syndrome (PASIII) after DiHS/DRESS. Prompted by this case, we sought to determine which triggering factors were responsible for later development of PASIII in previously published cases with autoimmune sequelae. Read More

Clin Endocrinol (Oxf) 2018 Oct 25. Epub 2018 Oct 25.

Division of Endocrinology, Diabetes, and Hypertension, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

Context: Activating antibodies directed at the extracellular calcium-sensing receptor (CaSR) have been described in autoimmune hypoparathyroidism in the setting of isolated hypoparathyroidism or autoimmune polyglandular syndrome type 1.

Materials And Methods: A 34-year-old female presented with hypocalcaemia (6.0 mg/dL) and hypomagnesaemia (1. Read More

Autoimmun Rev 2018 Dec 12;17(12):1169-1175. Epub 2018 Oct 12.

Institute for Translational Immunology and Research Center for Immunotherapy (FZI), Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany; Division of Gastroenterology and the Deaconess Medical Center, Harvard Medical School, Boston, MA, United States. Electronic address:

Celiac disease is a small intestinal inflammatory disease with autoimmune features that is triggered and maintained by the ingestion of the storage proteins (gluten) of wheat, barley and rye. The prevalence of celiac disease is increased in patients with monoglandular and/or polyglandular autoimmunity and their relatives. Between 10 and 30% of patients with celiac disease are thyroid and/or type 1 diabetes antibody positive, while around 5 to 7% of patients with autoimmune thyroid disease and/or type 1 diabetes are IgA anti-tissue transglutaminase antibody positive. Read More

J Immunol Res 2018 4;2018:3930750. Epub 2018 Sep 4.

Department of Immunology, College of Basic Medical Sciences, Jilin University, Changchun 130021, China.

Autoimmune regulator (AIRE), whose gene mutation is considered to be a causative factor of autoimmune polyglandular syndrome type 1 (APS1), is an important transcriptional regulator. Studies on the role of AIRE in the central immune system have demonstrated that AIRE can eliminate autoreactive T cells by regulating the expression of a series of tissue specific antigens promiscuously in medullary thymic epithelial cells (mTECs) and induce regulatory T cell (Treg) production to maintain central immune tolerance. However, the related research of AIRE in peripheral tolerance is few. Read More

Eur J Intern Med 2018 Aug 30. Epub 2018 Aug 30.

Manchester Medical Society, Simon Building, Brunswick Street, Manchester M13 9PL, United Kingdom. Electronic address:

Endocr Metab Immune Disord Drug Targets 2018 Aug 17. Epub 2018 Aug 17.

Department of Neurology, Gozde Akademi Hospital Malatya, Ankara asfaltı 6. Km No:219, 44110 Yeşilyurt/ Malatya. Turkey.

Backgraund and Objective: Anti-Saccharomyces Cerevisiae Antibodies (ASCA) that are considered to reflect immune response against increased intestinal permeability due to mucosal damage are among the serological markers of Crohn's Disease.

Methods: However, this microbial seromarker was recently shown to be elevated in several autoimmune disorders such as celiac disease, autoimmune liver diseases, type 1 diabetes, and Graves' disease. Despite that fact, ASCA seropositivity in autoimmune polyglandular syndrome (APS) have never been reported before. Read More

Autoimmun Rev 2018 Oct 11;17(10):1028-1039. Epub 2018 Aug 11.

Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Bogota, Colombia. Electronic address:

Primary immunodeficiency diseases (PIDs) consist of a large group of genetic disorders that affect distinct components of the immune system. PID patients are susceptible to infection and non-infectious complications, particularly autoimmunity. A specific group of monogenic PIDs are due to mutations in genes that are critical for the regulation of immunological tolerance and immune responses. Read More

Front Endocrinol (Lausanne) 2018 26;9:428. Epub 2018 Jul 26.

Biomedical Department of Internal and Specialist Medicine, Section of Diabetes, Endocrinology and Metabolism, University of Palermo, Palermo, Italy.

Cardiovascular disease is a frequent complication of type 1 diabetes (T1D). We evaluated the effectiveness of switching from glargine to degludec in reducing the cardiovascular risk factors, the Framingham risk score (FRS) and visceral adiposity index (VAI) in patients with T1D and autoimmune polyglandular syndrome (APS). We selected 66 T1D outpatients who had been on stable treatment with glargine for at least 5 years. Read More

QJM 2018 Jul 31. Epub 2018 Jul 31.

Post Graduate Institute of Medical Education and Research, Endocrinology.

QJM 2018 Jul 31. Epub 2018 Jul 31.

Front Immunol 2018 28;9:1380. Epub 2018 Jun 28.

Department of Infection, Immunity and Cardiovascular Disease, The Medical School, University of Sheffield, Sheffield, United Kingdom.

Autoimmune regulator (AIRE) regulates promiscuous expression of tissue-restricted antigens in medullary epithelial cells (mTEC) of the thymus. To understand the diverse effects of AIRE, it is crucial to elucidate the molecular mechanisms underlying the process of AIRE-regulated gene expression. In this study, we generated a recombinant AIRE expression variant of the TEC 1A3 human cell line, TEC 1A3 AIRE, to determine genes targeted by AIRE, and using microarray analysis, we identified 482 genes showing significant differential expression ( < 0. Read More

Gene 2018 Oct 26;674:93-97. Epub 2018 Jun 26.

Department of Paediatrics Endocrinology and Diabetes, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Kispaticeva 12, 10000 Zagreb, Croatia.

This study included 161 patients: 92 patients had type 1 diabetes (T1D) while 69 patients had a combination of T1D and autoimmune thyroiditis, the so-called autoimmune polyglandular syndrome type 3 variant (APS3v). Those patients, as well as 93 controls, were typed for HLA-DRB1 and -DQB1 genes to assess their possible contribution to the development/protection of T1D with/without autoimmune thyroiditis. Both HLA-DRB1*04 and -DRB1*03 frequencies were significantly higher among T1D and APS3v patients than in controls. Read More

Rev Bras Ginecol Obstet 2018 Jul 27;40(7):425-429. Epub 2018 Jun 27.

Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil.

Polyglandular autoimmune syndrome type II (PGA-II) is a rare immunoendocrinopathy syndrome characterized by the occurrence of autoimmune Addison disease along with diabetes mellitus type 1 and/or autoimmune thyroid disease. Here, we report the case of a 23-year-old female with PGA-II who was followed up at the dermatology and endocrinology clinics of the Universidade Federal do Triângulo Mineiro, located in the state of Minas Gerais, Brazil. First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and weight loss, hypoglycemia, amenorrhea, and galactorrhea, the patient was then diagnosed with PGA-II. Read More

Nutrients 2018 Jun 25;10(7). Epub 2018 Jun 25.

Institute for Translational Immunology and Research Center for Immunotherapy (FZI), Johannes Gutenberg University (JGU) Medical Center, 55101 Mainz, Germany.

Celiac disease is a small intestinal inflammatory disease with autoimmune features that is triggered and maintained by the ingestion of the storage proteins (gluten) of wheat, barley, and rye. Prevalence of celiac disease is increased in patients with mono- and/or polyglandular autoimmunity and their relatives. We have reviewed the current and pertinent literature that addresses the close association between celiac disease and endocrine autoimmunity. Read More

BMC Dev Biol 2018 06 26;18(1):15. Epub 2018 Jun 26.

Laboratory of Animal Reproduction, College of Animal Science and Technology, Nanjing Agricultural University, Nanjing, 210095, China.

Background: Diabetes and hypothyroidism produce adverse effects on body weight and sexual maturity by inhibiting body growth and metabolism. The occurrence of diabetes is always accompanied with thyroid dysfunction. Thus, it is important to take hypo- or hyper-thyroidism into consideration when exploring the adverse effects caused by diabetes. Read More

J Diabetes Investig 2018 Nov 15;9(6):1381-1382. Epub 2018 Jun 15.

Department of Diabetes, Endocrinology and Metabolism, Kawasaki Medical School, Kurashiki, Japan.

Endocrinol Diabetes Metab Case Rep 2018 6;2018. Epub 2018 Jun 6.

Divisions of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine, University Hospital of Erlangen, Erlangen, Germany.

We report on a boy of Albanian descent with the history of juvenile myelomonocytic leukemia (JMML). JMML was diagnosed at the age of 17 months and treated by hematopoietic stem cell transplantation (HSCT). At the age of 14. Read More

Handb Clin Neurol 2018 ;155:353-368

Department of Medicine, University of Washington, Seattle, United States.

Hormonal disorders are a source of cerebellar ataxia in both children and adults. Normal development of the cerebellum is critically dependent on thyroid hormone, which crosses both the blood-brain barrier and the blood-cerebrospinal fluid barrier thanks to specific transporters, including monocarboxylate transporter 8 and the organic anion-transporting polypeptide 1C1. In particular, growth and dendritic arborization of Purkinje neurons, synaptogenesis, and myelination are dependent on thyroid hormone. Read More

Clin Case Rep 2018 May 11;6(5):847-850. Epub 2018 Mar 11.

Department of Medicine Rutgers - Robert Wood Johnson Medical School New Brunswick New Jersey.

Autoimmune polyglandular syndrome type 1 (APS1) is a rare autosomal recessive disorder, and large granular lymphocytic leukemia (LGLL) may, even more rarely, complicate APS1. LGLL may be subtle in presentation, but it is imperative to recognize LGLL in APS1 promptly, as outcome may otherwise be fatal, as described herein. Read More

Horm Res Paediatr 2018 May 4:1-5. Epub 2018 May 4.

Background: Hashimoto thyroiditis (HT) is uncommon in infancy, and myxedema coma (MC) is even less common. While prior reports have documented these entities separately, to our knowledge, MC in combination with HT has not been reported before in this age group.

Methods/results: A 10-month-old female presented with ptosis, lethargy, dysphagia, and failure to thrive (FTT). Read More

BMJ Case Rep 2018 May 2;2018. Epub 2018 May 2.

Department of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland Medical Center, Baltimore, Maryland, USA.

Anti-N-methyl-D-aspartic acid-receptor (NMDA-R) encephalitis is a novel disease discovered within the past 10 years. It is an autoimmune disease (AD) that has been associated with other ADs, such as Graves' disease. However, association with autoimmune polyglandular syndromes (APS) has not been previously described. Read More

Am J Emerg Med 2018 Dec 24;36(12):2333. Epub 2018 Apr 24.

Manchester Medical Society, Simon Building, Brunswick Street, Manchester M13 9PL, United Kingdom. Electronic address:

Front Immunol 2018 12;9:98. Epub 2018 Feb 12.

Department of Pediatrics, Neonatal Intensive Care, Vito Fazzi Regional Hospital, Lecce, Italy.

About two decades ago, cloning of the autoimmune regulator () gene materialized one of the most important actors on the scene of self-tolerance. Thymic transcription of genes encoding tissue-specific antigens (ts-ags) is activated by AIRE protein and embodies the essence of thymic self-representation. Pathogenic AIRE variants cause the autoimmune polyglandular syndrome type 1, which is a rare and complex disease that is gaining attention in research on autoimmunity. Read More

Clin Chem Lab Med 2018 May;56(6):896-900

Endocrinology Unit, Department of Medicine (DIMED), University of Padova, Padova, Italy.

Autoimmune Addison's disease (AAD) is the most frequent cause of adrenocortical insufficiency. The natural history of AAD usually comprises five consecutive stages with the first stage characterized by the increase of plasma renin consistent with the impairment of pars glomerulosa, which is usually the first affected layer of the adrenal cortex. We describe a 19-year-old female with Hashimoto's thyroiditis (HT) who underwent an autoantibody screening due to having the personal and family history of other autoimmune diseases in the absence of relevant clinical manifestations. Read More

Endocr J 2018 Apr 16;65(4):493-498. Epub 2018 Feb 16.

Department of Endocrinology and Metabolism, Dokkyo Medical University, Mibu, Shimotsuga, Tochigi, Japan.

We describe a very rare case of concurrent variant type 3 autoimmune polyglandular syndrome (APS) and pulmonary arterial hypertension (PAH). A previously healthy 65-year-old Japanese woman was referred to our university hospital with a 2-month history of general fatigue and hyperglycemia. Laboratory tests revealed severe hyperglycemia (plasma glucose 543 mg/dL and HbA1c 10. Read More

J Clin Endocrinol Metab 2018 05;103(5):1977-1984

Molecular Thyroid Research Laboratory, Johannes Gutenberg University Medical Center, Mainz, Germany.

Context: Single nucleotide polymorphisms (SNPs) of various genes increase susceptibility to monoglandular autoimmunity. Data on autoimmune polyglandular syndromes (APSs) are scarce.

Objective: Evaluate potential associations of eight SNPs with APSs. Read More

J Med Life 2017 Oct-Dec;10(4):250-253

Département de Médecine Interne, CHRU Strasbourg, France.

Objective: To investigate the association between pernicious anemia and other autoimmune diseases.

Methods: This retrospective and bicentric study was conducted at Reims and Strasbourg University Hospitals and involved 188 patients with pernicious anemia examined between 2000 and 2010 in order to search for other autoimmune diseases and to evaluate the role of pernicious anemia in autoimmune polyglandular syndrome.

Results: A total of 74 patients with a combination of pernicious anemia and other autoimmune diseases were included in the study. Read More

J Pediatr Endocrinol Metab 2018 Jan;31(1):101-105

Department of Pediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, UCL Institute of Child Health, London, UK.

Background: Polyglandular autoimmune syndrome (PGA) and eosinophilic granulomatosis with polyangiitis (EGPA) do not seem to represent a coincidental association.

Case Presentation: A case of a 15-year-old boy is reported who presented with severe systemic inflammation, perimyocarditis and cardiogenic shock, in whom EGPA was initially suspected and later diagnosed with autoimmune adrenalitis with PGA.

Conclusions: The severity of the systemic inflammation and perimyocarditis suggests a more widespread autoimmune-mediated process. Read More

Clin Diabetes Endocrinol 2017 28;3:11. Epub 2017 Nov 28.

University of North Carolina (UNC) Family Medicine, 590 Manning Drive, CB#7595, Chapel Hill, NC 27514 USA.

Background: Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes can pose challenges to clinicians who see it less frequently. Symptoms of hyperglycemia and risk of ketoacidosis may be missed. Further, endocrine autoimmune disease can run together in patients and families. Read More

Transl Pediatr 2017 Oct;6(4):300-312

The Ohio State University College of Medicine, Columbus, OH, USA.

The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual's health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. Read More

Intern Med 2018 Feb 20;57(4):527-535. Epub 2017 Nov 20.

Department of Respiratory Medicine, Uonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital, Japan.

A 63-year-old Japanese woman with advanced lung adenocarcinoma developed isolated adrenocorticotropin deficiency caused by immune checkpoint inhibitor (ICI)-related hypophysitis following 8 months of nivolumab therapy. Prompt corticosteroid replacement therapy effectively relieved her secondary adrenal insufficiency symptoms and allowed her to pursue nivolumab therapy, which had been effective for the control of lung adenocarcinoma. Human leukocyte antigen (HLA) typing revealed the presence of the DRB1*04:05-DQA1*03:03-DQB1*04:01 haplotype, which is associated with susceptibility to autoimmune polyglandular syndrome with pituitary disorder in the Japanese population. Read More

Autoimmun Rev 2018 Jan 4;17(1):78-85. Epub 2017 Nov 4.

Division of Rheumatology, Allergy and Clinical Immunology, School of Medicine, University of California, Davis, CA 95616, USA. Electronic address:

Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. Read More

Acta Biomed 2017 10 23;88(3):271-275. Epub 2017 Oct 23.

Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy.

Background: no reviews have specifically addressed , to now, whether autoimmune polyglandular syndromes (APSs) may have a peculiar epidemiology and phenotypical expression in pediatric ageObjectives: to review the most recent literature data about the specific epidemiological and clinical peculiarities of APSs in childhood and adolescenceDesign: the main features of the different APSs in pediatric age were compared among them.

Conclusions: 1) Among the different APSs, the one that is most typical of pediatric age is APS-1; 2) APS-1 is not characterized only by the classical triad (chronic moniliasis-hyposurrenalism-hypoparathyroidism) and its clinical spectrum is enlarging over time; 3)APS-2 may have a different epidemiological and clinical expression according to two different nosological classifications. Read More

Pediatr Endocrinol Diabetes Metab 2017 ;23(1):49-55

Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Bialystok, Poland.

Polyglandular autoimmune syndromes (PAS) is a group of heterogenous conditions characterized by the association of at least two organ-specific autoimmune disorders, concerning both endocrine and non-endocrine organs. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune condition (other than Addison's disease) and is divided into four subtypes. We describe a teenage female patient - with the family history of autoimmune diseases, who has simultaneously developed the symptoms of autoimmune thyroid disease with the clinical picture of hyperthyroidism and myasthenia gravis at the age of fifteen. Read More

Endocrinol Diabetes Metab Case Rep 2017 13;2017. Epub 2017 Oct 13.

1st Department of Cardiology, Hellenic Red Cross Hospital, Athens, Greece.

We describe a case of a 40-year-old woman who was admitted to the intensive care unit with a rapid onset of dyspnea and orthopnea. She presented progressive weakness, weight loss and secondary amenorrhea during last year, while intermittent fever was present for the last two months. Initial biochemical evaluation showed anemia, hyponatremia and increased C-reactive protein levels. Read More

Gynecol Endocrinol 2018 Apr 18;34(4):283-285. Epub 2017 Oct 18.

b First Department of Obstetrics and Gynecology , Semmelweis University , Budapest , Hungary.

Primary antibody deficiency syndromes are a rare group of disorders present at any age, with complex polygenic disorders. We report the forth case of polyglandular autoimmune syndrome (PAS) type IIIc worldwide with complex clinical features and no family history of endocrine disorders or primary immunodeficiencies. Our patient, a 44-year-old Caucasian female was diagnosed with PAS type IIIc due to the presence of autoimmune thyroiditis, autoimmune alopecia diffusa and primary ovarian insufficiency, associated with lymphoproliferative disease and primary antibody failure. Read More

Endocrine 2017 Dec 16;58(3):521-527. Epub 2017 Oct 16.

Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176, Stockholm, Sweden.

Purpose: The pathophysiology behind autoimmune Addison's disease (AAD) is poorly understood, and the relative influence of genetic and environmental factors remains unclear. In this study, we examined the heritability of AAD and explored disease-associated autoimmune comorbidity among Swedish twins.

Methods: A population-based longitudinal cohort of 112,100 Swedish twins was used to calculate the heritability of AAD, and to explore co-occurrence of 10 organ-specific autoimmune disorders in twin pairs with AAD. Read More

Autoimmun Rev 2017 Dec 14;16(12):1196-1208. Epub 2017 Oct 14.

Charité - Universitätsmedizin Berlin, Department of Dermatology and Allergology, Charitéplatz 1, Berlin D-10117, Germany. Electronic address:

Background And Objective: Numerous autoimmune diseases (AIDs) have been linked to chronic spontaneous urticaria (CSU). Here, we provide the first extensive and comprehensive evaluation of the prevalence of AIDs in patients with CSU and vice versa.

Methods: A Pubmed and Google Scholar search was performed to identify studies reporting the prevalence of various AIDs in CSU and vice versa published before April 2017. Read More

Minerva Endocrinol 2018 Sep 9;43(3):305-322. Epub 2017 Oct 9.

Unit of Nuclear Medicine, Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Messina, Italy.

The endocrine system is interested by several autoimmune diseases, characterized by different impact and severity, according to the organs involved. Autoimmune thyroid disorders (i.e. Read More

Proc (Bayl Univ Med Cent) 2017 Oct;30(4):427-428

Department of Internal Medicine (Freeland) and Division of Pulmonary and Critical Care Medicine (Tsai-Nguyen, Pan, Mora), Baylor University Medical Center at Dallas; and the Texas A&M Health Science Center College of Medicine (Lueking).

We report a 67-year-old woman who presented with adrenal crisis as a manifestation of autoimmune polyglandular syndrome 2, a polygenic disorder characterized by concurrent primary adrenal insufficiency and either autoimmune thyroid disease or type 1 diabetes mellitus. Read More

Endocr Connect 2017 Nov 27;6(8):685-691. Epub 2017 Sep 27.

Endocrinology in CharlottenburgBerlin, Germany

Context: Patients with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) are at a high risk of adrenal crisis (AC). Glucocorticoid sensitivity is at least partially genetically determined by polymorphisms of the glucocorticoid receptor (GR).

Objectives: To determine if a number of intercurrent illnesses and AC are associated with the GR gene polymorphism I in patients with PAI and CAH. Read More

Clin Endocrinol (Oxf) 2018 Jan 3;88(1):139-145. Epub 2017 Oct 3.

Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.

Objective: The frequency of autoimmunity against the parathyroid glands in patients with polyglandular autoimmunity that is not due to autoimmune polyendocrine syndrome type 1 (APS1) is unclear. To investigate this, this study aimed to determine the prevalence of autoantibodies against parathyroid autoantigens, calcium-sensing receptor (CaSR) and NACHT leucine-rich-repeat protein 5 (NALP5), in a large group of patients with non-APS1 polyendocrine autoimmunity. Possible occult APS1 was investigated by cytokine autoantibody measurement and AIRE gene analysis. Read More

Front Endocrinol (Lausanne) 2017 28;8:212. Epub 2017 Aug 28.

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Polyglandular autoimmune syndrome (PAS) type 3 consists of autoimmune thyroid disease (AITD) coexisting with ≥1 non-thyroidal autoimmune disease (NTAID) other than Addison's disease and hypoparathyroidism. We evaluated the prevalence and repertoire of thyroid hormones antibodies (THAb) in PAS-3 patients. Using a radioimmunoprecipation technique, we measured THAb (T3IgM, T3IgG, T4IgM, and T4IgG) in 107 PAS-3 patients and 88 controls (patients with AITD without any NTAID). Read More

Endocrine 2018 01 7;59(1):109-119. Epub 2017 Sep 7.

Department of Biological Chemistry, School of Medicine, National and Kapodistrian University of Athens, Athens, 11527, Greece.

Purpose: Circadian timing system is a highly conserved, ubiquitous molecular "clock" which creates internal circadian rhythmicity. Dysregulation of clock genes expression is associated with various diseases including immune dysregulation. In this study we investigated the circadian pattern of Clock-related genes in patients with polyglandular autoimmune syndrome type III (PAS type III). Read More