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Indian J Endocrinol Metab 2022 Jan-Feb;26(1):50-54. Epub 2022 Apr 27.

Department of Endocrinology, Madurai Medical College, Madurai, Tamil Nadu, India.

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. Read More

Indian J Dermatol 2022 Jan-Feb;67(1):54-57

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Introduction: Ectodermal dysplasias (EDs) affect structures derived from the ectoderm such as skin, its appendages, nail, and teeth. In this series, we describe four patients presenting with a clinical phenotype of dysplasia of one or more ectodermal structures who underwent next-generation sequencing for mutational analysis.

Case Series: The clinical phenotype of three patients was hypohidrotic ectodermal dysplasia (HED) and one patient was diagnosed with autoimmune polyglandular syndrome (APS) type 1. Read More

J Clin Res Pediatr Endocrinol 2022 May 31. Epub 2022 May 31.

Department of Pediatric Endocrinology, Diabetes and Growth, Pediatric Hospital of Coimbra, Coimbra, Portugal.

Introduction: Primary adrenal insufficiency (PAI) is a rare condition in children, potentially life-threatening. The most common cause is congenital adrenal hyperplasia, and autoimmune etiology is the most frequent acquired cause in this age group. Symptoms are usually unspecific and, when suspected, investigation should include ACTH and morning serum cortisol and, in some cases, a cosyntropin test to confirm the diagnosis. Read More

Horm Res Paediatr 2022 May 24. Epub 2022 May 24.

Introduction: There is emerging speculation that the inflammatory state associated with SARS-CoV-2 infection may trigger autoimmune conditions, but no causal link is established. There are reports of autoimmune thyroiditis, and adrenal insufficiency in adults post-COVID-19. We describe the first pediatric report of autoimmune adrenal insufficiency and hypothyroidism after COVID-19. Read More

BMJ Case Rep 2022 May 20;15(5). Epub 2022 May 20.

Department of Paediatrics, Midland Regional Hospital, Mullingar, Westmeath, Ireland

An adolescent female was evaluated for fatigue, anorexia and unintentional weight loss of 7 kg. Initial investigations revealed subclinical autoimmune thyroid dysfunction, which progressed to overt hypothyroidism necessitating thyroxine replacement. She had entered early puberty, but this did not appear to be progressing. Read More

Ann Med Surg (Lond) 2022 Jun 16;78:103742. Epub 2022 May 16.

Department of Endocrinology, Aleppo University Hospital, Aleppo, Syria.

Introduction: Autoimmune polyglandular syndrome 2(APS 2) is immune-mediated destruction that affects two or more endocrine glands and causes a constellation of multiple glands insufficiencies.

Case Presentation: we reported a rare case 9 years old male diagnosed with APS 2; he had adrenal insufficiency three years ago due to leak adherence to hydrocortisone. He was admitted to the hospital for adrenal crises after hemodynamic stability; laboratory evaluation showed that he had Hashimoto's thyroiditis, celiac disease, and the glutamic acid decarboxylase antibody (GAD) Anti-islet cell antibodies were positive, so he was also predisposed to DM 1 later. Read More

Int J Trichology 2022 Mar-Apr;14(2):62-64. Epub 2022 Apr 4.

Pediatrics I Clinic, Mureş Emergency Hospital, Tîrgu Mureş, Romania.

Alopecia areata (AA) is an organ-specific autoimmune disease which affects hair follicles. It usually presents as a transient patchy hair loss, but it can sometimes progress into more severe forms such as AA totalis or AA universalis (AAU). Different autoimmune diseases, as well as autoimmune polyglandular syndromes (APS), have been associated with AA, especially with Type I and Type II APS. Read More

Eur Heart J Case Rep 2022 May 8;6(5):ytac145. Epub 2022 Apr 8.

Section of Pulmonary, Critical Care, and Sleep Medicine, Department of Medicine, Yale School of Medicine, New Haven, CT, USA.

Background: Cardiac tamponade is a rare but serious manifestation of autoimmune polyglandular syndrome Type 2 (APS 2). Patients often present with symptoms of thyroid dysfunction and adrenal insufficiency, but the insidious onset of the disease may lead to delayed diagnosis, which can progress rapidly to haemodynamic instability requiring urgent intervention.

Case Summary: A 39-year-old previously healthy male was admitted with cardiac tamponade complicated by cardiac arrest requiring emergent pericardiocentesis. Read More

Eur J Endocrinol 2022 May 24;187(1):111-122. Epub 2022 May 24.

Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, UK.

Objective: The autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disorder characterised by immune dysregulation and autoimmune endocrine gland destruction. APS-1 is caused by biallelic mutations affecting the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which facilitates immunological self-tolerance. Read More

Andes Pediatr 2021 Dec 5;92(6):911-916. Epub 2021 Nov 5.

Hospital Luis Calvo Mackenna, Santiago, Chile.

Introduction: Type 1 diabetes mellitus (T1DM) is one of the most frequent autoimmune diseases in childhood. Its diagnosis requires the search for other autoimmune diseases.

Objective: to present the case of a pediatric patient with two rare concomitant autoimmune endocrine diseases. Read More

J Endocr Soc 2022 May 12;6(5):bvac039. Epub 2022 Apr 12.

Division of Endocrinology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN 55454, USA.

Primary adrenal insufficiency (PAI) is often the first clinical sign of X-linked adrenoleukodystrophy (X-ALD), a rare genetic disorder that can present with various clinical phenotypes. A subset of boys with X-ALD develop cerebral ALD (cALD), characterized by progressive central demyelination, neurocognitive decline, and ultimately death. Timely intervention with hematopoietic cell transplant (HCT) can be a life-saving therapy by stopping progression of cerebral disease. Read More

Rinsho Ketsueki 2022 ;63(3):189-193

Department of Hematology, NTT Medical Center Tokyo.

We present a case of a 41-year-old woman who was diagnosed with autoimmune polyendocrine syndrome type 1 (APS-1) at the age of 2. She developed severe anemia and was diagnosed with pure red cell aplasia (PRCA) and T-cell large granular lymphocyte leukemia at the age of 34. The pathogenesis of APS-1 is based on the presence of an inactive mutation in the autoimmune regulator gene on thymic medullary epithelial cells. Read More

Pan Afr Med J 2022 12;41:31. Epub 2022 Jan 12.

University Teaching Hospitals, Department Of Medicine, Endocrine Unit, Lusaka, Zambia.

Autoimmune polyglandular syndromes (APS) are rare autoimmune endocrinopathies characterized by the coexistence of at least two endocrine gland insufficiencies developed from autoimmune mechanisms. APS may also be associated with non-endocrine immune diseases. In HIV infection, antiretroviral therapy can improve the quality of life to reduce the incidence of opportunistic infections, malignancies, and death. Read More

Front Endocrinol (Lausanne) 2022 17;13:836102. Epub 2022 Mar 17.

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

Type 1 diabetes mellitus (T1DM) is often complicated with some other autoimmune disorders. The complication of various autoimmune disorders is known as autoimmune polyglandular syndrome (APS). Once autoimmune thyroid disease develops, various autoimmune diseases can also occur. Read More

Cell Rep Methods 2022 Feb 17;2(2). Epub 2022 Feb 17.

Department of Immunobiology, Yale School of Medicine, New Haven, CT 06510, USA.

Autoantibodies that recognize extracellular proteins (the exoproteome) exert potent biological effects but are challenging to detect. Here, we developed rapid extracellular antigen profiling (REAP), a high-throughput technique for the comprehensive discovery of exoproteome-targeting autoantibodies. Patient samples are applied to a genetically barcoded yeast surface display library containing 2,688 human extracellular proteins. Read More

Forensic Sci Med Pathol 2022 Jun;18(2):228

Department of Healthcare Surveillance and Bioethics, Section of Legal Medicine, Università Cattolica del Sacro Cuore, Rome, Italy.

Pediatrics 2022 04;149(4)

Divisions of Pediatric Endocrinology.

Immune checkpoint inhibitor (ICI) therapies are now first-line therapy for many advanced malignancies in adults, with emerging use in children. With increasing ICI use, prompt recognition and optimal management of ICI-associated immune-related adverse events (IRAEs) are critical. Nearly 60% of ICI-treated adults develop IRAEs, which commonly manifest as autoimmune skin, gastrointestinal, and endocrine disease and can be life-threatening. Read More

Science 2022 02 24;375(6583):829-830. Epub 2022 Feb 24.

Laboratory of Human Genetics of Infectious Diseases, Imagine Institute, University of Paris and INSERM U1163, Paris, France.

Autoantibodies that neutralize type I interferons increase with age. Read More

Spec Care Dentist 2022 Feb 19. Epub 2022 Feb 19.

Department of Stomatology, Special Care Dentistry Center, University of São Paulo, São Paulo, Brazil.

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. Read More

Hormones (Athens) 2022 Jun 19;21(2):317-322. Epub 2022 Feb 19.

Faculty of Health and Medical Research, Copenhagen University, Copenhagen, Denmark.

Background: Autoimmune disease, including autoimmune thyroid disease, with uncharacteristic symptoms can be due to additional severe disease. We report a life-threatening debut of autoimmune polyglandular syndrome type II (APS II) defined as Addison's disease combined with autoimmune diabetes and/or thyroid disease.

Patient Findings: A 33-year-old male with newly diagnosed hypothyroidism was referred to a tertiary center due to fatigue and 20-kg rapid weight loss. Read More

J Pediatr Endocrinol Metab 2022 Apr 16;35(4):477-480. Epub 2022 Feb 16.

Pediatric Endocrinology Diabetes and Growth Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.

Objectives: Polyglandular autoimmune syndromes (PAS) are characterized by the association of two or more autoimmune diseases (AID) and are classified into four types. PAS type 1 is more frequently manifested in childhood, but the prevalence of other PAS in children, less described in the literature, seems to be underestimated.

Methods: This study aimed to evaluate the prevalence of PAS in a selected pediatric population of 879 children with Diabetes mellitus type 1 (DM1), autoimmune thyroid disease (AITD), and Addison's disease (AD) followed in our hospital for 10 years and describe and classify the manifestations of different PAS. Read More

J Clin Immunol 2022 May 10;42(4):863-865. Epub 2022 Feb 10.

Fungal Pathogenesis Section, Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Clin Case Rep 2022 Feb 4;10(2):e05391. Epub 2022 Feb 4.

Division of Hospital Internal Medicine Department of Internal Medicine Mayo Clinic College of Medicine and Science Scottsdale Arizona USA.

Autoimmune polyglandular syndromes (APS) are rare disorders characterized by auto-destruction of endocrine and non-endocrine organs by organ-specific antibody-directed T-lymphocytic infiltration. This case highlights a 29-year-old Caucasian man with vitiligo found to have significant neurological abnormalities in the setting of newly diagnosed pernicious anemia and thyroid autoimmune disease. Read More

Am J Ophthalmol Case Rep 2022 Mar 20;25:101266. Epub 2022 Jan 20.

Department of Ophthalmology & Visual Sciences, Sharon Eccles Steele Center for Translational Medicine, John A. Moran Eye Center, University of Utah, 65 N. Mario Capecchi Drive, Salt Lake City, UT, USA.

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. Read More

Pancreas 2021 Nov-Dec 01;50(10):1363-1367

From the Department of Medicine, Pancreas Institute, University of Verona, G.B. Rossi University Hospital, Verona, Italy.

Objective: Rituximab (RTX) has been proposed for the induction of remission and maintenance therapy in relapsing type 1 autoimmune pancreatitis (AIP). The aim of the study was to describe the use of RTX as maintenance therapy for patients with type 1 AIP.

Methods: Patients with type 1 AIP based on the International Consensus Diagnostic Criteria and treated with RTX were selected from our database. Read More

Front Immunol 2021 20;12:796552. Epub 2021 Dec 20.

The Fleischer Institute for Diabetes and Metabolism, Department of Medicine, Albert Einstein College of Medicine, New York, NY, United States.

Autoimmune polyglandular syndrome type 3 variant (APS3v) refers to an autoimmune condition in which both type 1 diabetes (T1D) and autoimmune thyroiditis (AITD) develop in the same individual. HLA-DR3 confers the strongest susceptibility to APS3v. Previously we reported a unique amino acid signature pocket that predisposes to APS3v. Read More

J Coll Physicians Surg Pak 2022 Jan;32(1):102-104

Department of Obstetrics and Gynaecology, Wrexham Maelar Hospital, Betsi Cadwaladr University Health Board, North Wales, United Kingdom.

We report a case of a lady who had polyglandular autoimmune syndrome type II (hypothyroidism, Addison's disease, vitiligo), who completed a successful pregnancy. Addison's disease (AD) was confirmed by the presence of anti-adrenal antibodies and hyponatremia. The patient had pre-pregnancy counselling about the need of antepartum, intrapartum and postpartum steroids. Read More

Rom J Intern Med 2022 Jun 14;60(2):123-126. Epub 2022 Jun 14.

Department of Neurology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, Delhi, India, PIN-110095.

Autoimmune polyglandular syndrome (APS) is a condition having multiple endocrine abnormalities. It is divided into three types depending on the involvement of various endocrinopathies. It is also associated with other systemic involvement. Read More

Case Rep Endocrinol 2021 13;2021:6009141. Epub 2021 Dec 13.

Division of Dermatology, Department of Pediatrics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas, MO 64111, USA.

Autoimmune polyglandular syndrome type 1 (APS1) is a progressive life-threatening illness with no known cure. Current treatments involve replacement of the hormone deficiencies that result from autoimmune destruction of multiple endocrine organs. We report on a girl whose disease was progressing rapidly until she began on immunosuppressive agents. Read More

J Endocr Soc 2021 Dec 23;5(12):bvab151. Epub 2021 Sep 23.

Institute of Endocrinology and Centre for Excellence in Diabetes and Obesity, Rambam Health Care Campus, Haifa, Israel.

Type 1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide. The first of its cardinal manifestations, chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison's disease, presents in childhood. Additional nonclassical landmarks of APS1 continue to develop as late as the fifth decade of life. Read More