Autoimmune polyglandular syndrome type II with co-manifestation of Addison’s and Graves’ disease in a 15-year-old boy: case report and literature review

2020 ◽  
Vol 33 (4) ◽  
pp. 575-578
Author(s):  
Lena Schulz ◽  
Elke Hammer
Keyword(s):  
Type I Diabetes ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Type I ◽  
Syndrome Type ◽  
Type Ii ◽  
Autoimmune Thyroid ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Low Cortisol

AbstractBackgroundAutoimmune polyglandular syndrome type II (APS II) is defined as the combination of autoimmune adrenal insufficiency and autoimmune thyroid disease (AITD) and/or type I diabetes mellitus (T1DM) in the same patient.Case presentationA 15-year-old boy had a history of weight loss, nausea and vomiting, headache, restlessness, and tanned skin. He was diagnosed with Graves’ disease. Two weeks after carbimazol therapy was commenced, he presented with adrenal crises (fever, arterial hypotension, hyponatremia, adrenocorticotropic hormone [ACTH] 1119.6 ng/mL [normal range <60] and low cortisol). He received hydrocortisone and fludrocortisone, and improved quickly. Thyroid-stimulating hormone (TSH) receptor autoantibodies as well as 21-hydroxylase antibodies were elevated.ConclusionsAlthough the combination of Graves’ and Addison’s disease is extremely rare, especially in children, it is critical to make the diagnosis. Accelerated metabolic rate increased the risk for adrenal crises in our patient. This case contributes to the spectrum of APS II and its manifestation.

scholarly journals Autoimmune Polyglandular Syndrome Type II presenting as Subacute Combined Degeneration of Spinal Cord: A Neuroendocrinology Crossroad

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Prateek Bapat ◽  
Suman Kushwaha ◽  
Chirag Gupta ◽  
R Kirangowda ◽  
Vaibhav Seth
Keyword(s):  
Spinal Cord ◽  
Final Diagnosis ◽  
Lower Limbs ◽  
Syndrome Type ◽  
Type Ii ◽  
Subacute Combined Degeneration ◽  
Autoimmune Thyroid ◽  
Systemic Involvement ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

Abstract Introduction - 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. The basic pathophysiology of this syndrome revolves around autoimmunity. Case Presentation - We present a 50 year old gentleman who presented to us in emergency with subacute onset progressive weakness of both lower limbs followed by upper limbs. On examination, patient was confused and disoriented. General examination findings include hypotension, pallor, facial puffiness and vitiligo. Neurological examination revealed spasticity and motor weakness in all four limbs with extensor planter response. Sensory examination during hospital course revealed posterior column involvement. Laboratory and radiological investigations confirmed subacute combined degeneration of spinal cord secondary to pernicious anaemia, Addison’s disease and autoimmune thyroid disease. The final diagnosis of autoimmune polyglandular syndrome type II was made after fulfilment of the required criteria. Conclusion – Autoimmune polyglandular syndrome type II can rarely present to neurologist as subacute combined degeneration of spinal cord. This syndrome and its systemic association should be kept in mind in order to reach the final diagnosis.

scholarly journals Late Presentation of Neglected Autoimmune Polyglandular Syndrome

2021 ◽  
pp. 176-182
Author(s):  
Rania Alsayed Murad ◽  
Ashraf Alakkad ◽  
Anwar Adwan ◽  
Mikdam Al Ramahi
Keyword(s):  
Diabetes Mellitus ◽  
Blood Glucose ◽  
Adrenal Insufficiency ◽  
Autoimmune Diabetes ◽  
Syndrome Type ◽  
Type Ii ◽  
Diabetes Mellitus Type Ii ◽  
Autoimmune Thyroid ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

A 60-year-old male patient, weighing 40 kg, having a BMI of 13, who was also a known case of Diabetes Mellitus Type II was shifted to the Orthopaedic Ward last month due to a fall, which led him to develop an intertrochanteric fracture in the femur. While the treatment of the patient was in an ongoing status for his fracture, his Diabetes was seen to be poorly controlled, with his blood glucose levels being constantly evaluated to be in a state of severe hypoglycaemia to slightly increased levels of blood glucose. On examination, the patient showed clear signs of being malnourished. He was in a bad and dishevelled state, he had creases on the palmar aspects of his hands and hyperpigmentation on his buccal mucosa. Furthermore, his lab reports revealed abnormalities in nearly every lab test ordered. Not only did he have elevated ACTH levels, but there was also a failure of Cortisol stimulation. His DEXA Scan showed that he was predisposed to develop severe osteoporosis and his malnourished condition was supportive of promoting that condition even more. The patient was diagnosed to be suffering from Autoimmune Polyglandular Syndrome, Type II. This is a rare condition of one of its kind where there is a pre-existence of autoimmune adrenal insufficiency along with either autoimmune thyroid disease or autoimmune diabetes mellitus. Since this condition is rare, it tends to often get overlooked upon diagnosis, leading to misdiagnosis because almost all of the presenting features or the symptoms of the prevalent endocrinological disorders present in this condition mimic either hypothyroidism, or diabetes, or adrenal insufficiency alone, and thus lead to further consequences when the condition does not resolve despite persistent treatment, such as the case in this patient. This paper reviews the background of the patient and the causes that possibly could have made him reach this advanced stage of the disease. The paper also reflects upon the disease, Autoimmune Polyglandular Syndrome Type II, as a whole and elaborates on the symptoms and signs which the patient tens to confuse with other endocrinological diseases. Lastly, this paper shall also review the appropriate management plan for the patient to ease his symptoms and accelerate his recovery process.

scholarly journals A rare simultaneous manifestation of polyglandular autoimmune syndrome type II

2020 ◽  
Vol 2020 ◽  
Author(s):  
Michael Dick ◽  
Michael Croxson
Keyword(s):  
Coeliac Disease ◽  
Autoimmune Thyroid Disease ◽  
Type I Diabetes ◽  
Type I ◽  
Syndrome Type ◽  
Type Ii ◽  
Polyglandular Autoimmune Syndrome ◽  
Autoimmune Thyroid ◽  
Autoimmune Syndrome ◽  
Polyglandular Autoimmune Syndrome Type

Summary Polyglandular autoimmune syndrome type II is a rare condition defined by the presence of autoimmune primary adrenal insufficiency along with autoimmune thyroid disease and/or type-I diabetes. Onset of these conditions will usually be separated by several years, though in rare instances it can occur simultaneously. This syndrome can also be associated with various non-endocrine autoimmune diseases, such as vitiligo and alopecia. Coeliac disease is less commonly associated with polyglandular autoimmune syndrome type II and is more commonly associated with polyglandular autoimmune syndrome type III. Here we describe an interesting case of a young male presenting with simultaneous manifestation of Addison’s disease and Graves, with coincident asymptomatic coeliac disease, as a rare manifestation of polyglandular autoimmune syndrome type II. Learning points: Polyglandular autoimmune syndrome type II is rare, has female predominance, and peak onset in the third and fourth decades of life. Onset of Addison’s disease will usually precede or follow onset of type-I diabetes or autoimmune thyroid disease by several years in this syndrome. Simultaneous onset can occur, as in this case. Coeliac disease is uncommonly associated with this syndrome. Coeliac disease is more commonly associated with polyglandular autoimmune syndrome type III. Coeliac disease should be screened for in patients with associated autoimmune conditions, such as type-I diabetes or autoimmune thyroid disease.

scholarly journals Autoimmune Polyglandular Syndrome type 2

2019 ◽  
Vol 65 (12) ◽  
pp. 1434-1437 ◽  
Author(s):  
Sofia Costa Martins ◽  
Gabriela Venade ◽  
Mónica Teixeira ◽  
João Olivério ◽  
João Machado ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Serum Cortisol ◽  
Graves Disease ◽  
Syndrome Type ◽  
Axial Tomography ◽  
Autoimmune Thyroid ◽  
Autoimmune Polyglandular Syndrome ◽  
Free Cortisol ◽  
Autoimmune Polyglandular Syndrome Type

SUMMARY Autoimmune polyglandular syndrome type 2 (APS 2) is defined by the presence of Addison’s disease (AD) associated with autoimmune thyroid disease and/or Type 1 diabetes mellitus (T1DM). It is a rare disease, affecting about 1.4-2 cases/100,000 inhabitants. Its less frequent clinical presentation is the combination of AD, Graves‘ disease, and T1DM. We present the case of a 42-year-old woman with a history of total thyroidectomy due to Graves’ disease, type 2 diabetes mellitus, and hypertension, who sought the ED due to asthenia, dizziness, nausea, and vomiting. She reported having stopped antihypertensive therapy due to hypotension and presented a glycemic record with frequent hypoglycemia. On physical examination, she had cutaneous hyperpigmentation. She had no leukocytosis, anemia, hypoglycemia, hyponatremia or hyperkalemia, and a negative PCR. Serum cortisol <0.5 ug/dl (4,3-22,4), urine free cortisol 9 ug/24h (28-214), ACTH 1384 pg/mL (4,7-48,8), aldosterone and renin in erect position of 0 pg/ml (41-323) and 430.7 uUI/ml (4.4-46.1) respectively. Quantiferon TB was negative; computerized axial tomography of the adrenals showed no infiltrations, hemorrhage, or masses. The 21-hydroxylase antibody assay was positive. B12 vitamin was normal, anti-GAD antibodies were positive, anti-insulin, anti-IA2, and anti-transglutaminase antibodies were all negative. The patient started insulin therapy and treatment for AD with prednisolone and fludrocortisone with good clinical response. This case aims to alert to the need for high clinical suspicion in the diagnosis of AD. Since this is a rare autoimmune disease, it is important to screen for other autoimmune diseases in order to exclude APS.

scholarly journals Defective Suppressor Function of Human CD4+ CD25+ Regulatory T Cells in Autoimmune Polyglandular Syndrome Type II

2004 ◽  
Vol 199 (9) ◽  
pp. 1285-1291 ◽  
Author(s):  
Martin A. Kriegel ◽  
Tobias Lohmann ◽  
Christoph Gabler ◽  
Norbert Blank ◽  
Joachim R. Kalden ◽  
...  
Keyword(s):  
T Cells ◽  
Regulatory T Cells ◽  
Autoimmune Diseases ◽  
Type I ◽  
Type Ii ◽  
Central Tolerance ◽  
Autoimmune Polyglandular Syndrome ◽  
Healthy Donors ◽  
Organ Specific ◽  
Autoimmune Polyglandular Syndrome Type

In autoimmune polyglandular syndromes (APS), several organ-specific autoimmune diseases are clustered. Although APS type I is caused by loss of central tolerance, the etiology of APS type II (APS-II) is currently unknown. However, in several murine models, depletion of CD4+ CD25+ regulatory T cells (Tregs) causes a syndrome resembling human APS-II with multiple endocrinopathies. Therefore, we hypothesized that loss of active suppression in the periphery could be a hallmark of this syndrome. Tregs from peripheral blood of APS-II, control patients with single autoimmune endocrinopathies, and normal healthy donors showed no differences in quantity (except for patients with isolated autoimmune diseases), in functionally important surface markers, or in apoptosis induced by growth factor withdrawal. Strikingly, APS-II Tregs were defective in their suppressive capacity. The defect was persistent and not due to responder cell resistance. These data provide novel insights into the pathogenesis of APS-II and possibly human autoimmunity in general.

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