scholarly journals A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue

2019 ◽  
Vol 6 ◽  
pp. 2333794X1984507 ◽  
Author(s):  
Ryan Kenneth Smith ◽  
Peter M. Gerrits
Keyword(s):  
Adrenal Insufficiency ◽  
Autoimmune Polyglandular Syndrome ◽  
Threatening Condition ◽  
Viral Illness ◽  
Persistent Fatigue ◽  
Life Threatening ◽  
Local Emergency Department ◽  
Autoimmune Polyglandular Syndrome Type ◽  
High Index Of Suspicion

Adrenal insufficiency is a rare, potentially life-threatening condition whose diagnosis requires a high index of suspicion. Adrenal insufficiency may be primary, secondary, or tertiary with varied etiologies. Primary insufficiency may be part of a cluster of autoimmune diseases, referred to as autoimmune polyglandular syndrome(s) (APS). We describe a case of a 15-year-old male who presents to a local emergency department complaining of fatigue, fever, abdominal pain, nausea, and vomiting for a few days with a preceding viral illness. The patient was hyponatremic and hyperkalemic with skin hyperpigmentation, raising concern for adrenal insufficiency. Laboratory workup confirmed autoimmune primary adrenal insufficiency, with subsequent laboratory studies revealing autoimmune thyroiditis and celiac disease. Concomitant Addison’s and Hashimoto’s diseases led to a diagnosis of APS type 2. The patient was started on steroid replacement with rapid clinical improvement.

scholarly journals Autoimmune polyglandular syndrome, type 2 associated with myasthenia gravis

2012 ◽  
Vol 69 (4) ◽  
pp. 358-362 ◽  
Author(s):  
Radoslav Pejin ◽  
Edita Stokic ◽  
Mile Novkovic ◽  
Sofija Banic-Horvat ◽  
Milan Cvijanovic
Keyword(s):  
Case Report ◽  
Myasthenia Gravis ◽  
Adrenal Insufficiency ◽  
Muscle Weakness ◽  
Hormone Replacement ◽  
Primary Hypothyroidism ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

Introduction. Autoimmune polyglandular syndrome type 2 is defined as adrenal insufficiency associated with autoimmune primary hypothyroidism and/or with autoimmune type 1 diabetes mellitus, but very rare with myasthenia gravis. Case report. We presented a case of an autoimmune polyglandular syndrome, type 2 associated with myasthenia gravis. A 49-year-old female with symptoms of muscle weakness and low serum levels of cortisol and aldosterone was already diagnosed with primary adrenal insufficiency. Primary hypothyroidism was identified with low values of free thyroxine 4 (FT4) and raised values of thyroidstumulating hormone (TSH). The immune system as a cause of hypothyroidism was confirmed by the presence of thyroid antibodies to peroxidase and TSH receptors. Myasthenia gravis was diagnosed on the basis of a typical clinical feature, positive diagnostic tests and an increased titre of antibodies against the acetylcholine receptors. It was not possible to confirm the immune nature of adrenal insufficiency by the presence of antibodies to 21- hydroxylase. The normal morphological finding of the adrenal glands was an indirect confirmation of the condition as well as the absence of other diseases that might have led to adrenal insufficiency and low levels of both serum cortisol and aldosterone. Hormone replacement therapy, anticholinergic therapy and corticosteroid therapy for myasthenia gravis improved the patient?s general state of health and muscle weakness. Conclusion. This case report indicates a need to examine each patient with an autoimmune disease carefully as this condition may be associated with another autoimmune diseases.

scholarly journals Features of clinical manifestations and treatment of Schmidt’s syndrome

2021 ◽  
Vol 16 (8) ◽  
pp. 713-720
Author(s):  
L.V. Shkala
Keyword(s):  
Adrenal Insufficiency ◽  
Autoimmune Thyroiditis ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Syndrome Type ◽  
Primary Adrenal Insufficiency ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Schmidt’S Syndrome

Background. Autoimmune polyglandular syndrome type 2 is the most common. The development and course of Schmidt’s syndrome is of interest, which requires a comprehensive diagnosis due to the combination of several autoimmune endocrinopathies, and rational therapy. The purpose of this work was to analyze the features of clinical manifestations and treatment of autoimmune polyglandular syndrome type 2 using a specific example. Materials and methods. A clinical case of Schmidt’s syndrome in a 36-year-old female patient is presented for consideration. There were primary adrenal insufficiency with an autoimmune process to 21-hydroxylase and the presence of autoimmune thyroiditis with the development of hypothyroidism. Results. The clinical manifestations of the disease were mainly represented by syndromes of hypotension, general and muscle weakness, hyperpigmentation, weight loss, dyspeptic disorders, aggravated by secondary viral infection, against the background of edematous syndrome. Additional examination revealed a significant increase in adrenocorticotropic hormone, renin, hyperkalemia, hypercholesterolemia, increased 17-hydroxyprogesterone, thyroid-stimulating hormone, hypothyroxinemia, an increase in antibodies to 21-hydroxylase and thyroid peroxidase and a decrease in the thyroid volume with multiple linear inclusions, increased echogenicity. The analysis of the identified hormonal, metabolic and pathomorphological changes made it possible to establish the pre­sence of Schmidt’s syndrome in this clinical case. The treatment with glucocorticoids was accompanied by adverse reactions, which led to repeated replacement of drugs. The choice was made in favor of сortef, the dose was carefully titrated under the control of cortisoluria. The administration of levothyroxine was accompanied by the achievement of euthyroidism. Conclusions. The symptoms of Schmidt’s syndrome with the simultaneous manifestation of primary adrenal insufficiency of autoimmune origin and autoimmune thyroiditis with the deve­lopment of hypothyroidism differed in terms of a mutually aggravating course. There were significant difficulties in the treatment of this polyglandular syndrome associated with the correction of hypocorticism due to poor tolerance of glucocorticoids, which required constant monitoring, continuous control of the hormonal and metabolic status.

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade

2021 ◽  
Vol 14 (4) ◽  
pp. e241680
Author(s):  
Aditya Sanjeevi ◽  
Adlyne Reena Asirvatham ◽  
Karthik Balachandran ◽  
Shriraam Mahadevan
Keyword(s):  
Adrenal Insufficiency ◽  
Vitamin D Supplementation ◽  
Chronic Mucocutaneous Candidiasis ◽  
Syndrome Type ◽  
Primary Amenorrhoea ◽  
Autoimmune Polyglandular Syndrome ◽  
Nail Changes ◽  
History Of ◽  
Autoimmune Polyglandular Syndrome Type

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq/L; potassium, 6 mEq/L; and albumin-corrected calcium, 6 mg/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8 pg/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy/autoimmune polyglandular syndrome type 1 .

Heterotopic pregnancy; case report

2019 ◽  
Vol 7 (05) ◽  
Author(s):  
Vipul R. Khandagale
Keyword(s):  
Risk Factors ◽  
Ectopic Pregnancy ◽  
Adnexal Mass ◽  
Heterotopic Pregnancy ◽  
Free Fluid ◽  
Threatening Condition ◽  
Life Threatening ◽  
Ectopic Pregnancies ◽  
High Index Of Suspicion ◽  
Low Risk Women

Heterotopic pregnancy is a rare clinical condition in which intrauterine and extrauterine pregnancies occur at the same time. It can be a life threatening condition and easily missed with the diagnosis. We present the case of a 37 year old patient who was treated for a heterotopic pregnancy with live intrauterine gestation and ruptured left adnexal gestation.The ectopic pregnancy was not suspected at her initial presentation. A high index of suspicion is needed in women with risk factors for an ectopic pregnancy and in low risk women who have free fluid with or without an adnexal mass with an intrauterine gestation.It is difficult to estimate exactly the incidence of ectopic pregnancies, but on an average it is approximately 1:300 normal pregnancies worldwide.

scholarly journals Autoimmune Polyglandular Syndrome Type 2 (APS-2) in a 70-Year-Old Woman: A Case Report

2019 ◽  
Vol 27 (124) ◽  
pp. 47-51
Author(s):  
Shahin Besharati ◽  
Pouria Tavakkolian ◽  
Roghayeh Borji ◽  
◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

scholarly journals A case of late manifestation of primary adrenal insufficiency in the autoimmune polyglandular syndrome type 1

2019 ◽  
Vol 47 (2) ◽  
pp. 175-179
Author(s):  
V. V. Troshina ◽  
T. A. Grebennikova ◽  
Zh. E. Belaya
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Case ◽  
Clinical Symptoms ◽  
Syndrome Type ◽  
Primary Adrenal Insufficiency ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyendocrine Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Timely Treatment

The article describes a clinical case of primary adrenal insufficiency which manifested at an atypically advanced age. Primary adrenal insufficiency combined with other clinical symptoms suggested the autoimmune polyendocrine syndrome type 1. Subsequently, the diagnosis was confirmed by the results of genetic testing. The particulars of the clinical case include the age of patient at manifestation of the disease (49  years). The lack of treatment resulted in dramatic clinical decompensation. This clinical case is intended to draw clinicians' attention to the necessity of detection of primary adrenal insufficiency and appropriate and timely treatment. Taking into account eventual diagnostic problems, it is necessary to raise awareness about this disease among practicing doctors of various specialties.

scholarly journals Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Adele Latina ◽  
Massimo Terzolo ◽  
Anna Pia ◽  
Giuseppe Reimondo ◽  
Elena Castellano ◽  
...  
Keyword(s):  
Postmenopausal Woman ◽  
Adrenal Insufficiency ◽  
Replacement Therapy ◽  
Genetic Disease ◽  
Hip Replacement ◽  
Acute Intermittent Porphyria ◽  
Adrenal Hemorrhage ◽  
Primary Adrenal Insufficiency ◽  
Threatening Condition ◽  
Life Threatening

Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. A crisis can be triggered by many conditions such as surgery and infections. Symptoms are similar to those of acute hypoadrenalism. Moreover, both conditions are characterized by hyponatremia. We describe the case of a postmenopausal woman known to be affected by AIP who developed after surgery a primary adrenal insufficiency associated with adrenal enlargement; the latter completely reverted in six months.

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