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 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

As a complement to basic research, thorough clinical investigation of rare diseases may provide fundamental elements which improve our understanding of still obscure pathophysiologic mechanisms. This is the case with immunoendocrinopathy syndromes. Since Addison's pioneer observations in the 19th century, physicians have known that some individuals and their families may be affected by several spontaneous endocrine insufficiencies that are associated with autoimmune extra-endocrine processes. APS-I or APECED syndrome appears in children firstly affected by recurrent muco-cutaneous candidiasis and hypoparathyroidism, followed by adrenocortical insufficiency and by other autoimmune processes. APS-I is a monogenic disorder resulting from one mutation in the AIRE gene. The protein encoded by AIRE is a nuclear transcription factor the precise target of which is still not known. AIRE is mainly expressed by cells playing a crucial role in the establishment of central T cell self-tolerance (medullary epithelium, macrophages and dendritic cells of the thymus). APS-I must be considered in children affected with recurrent candidiasis without any sign of primary immune deficiency. Scientific investigation of the biological nuclear events controlled by AIRE has to be pursued. Undoubtedly, their deciphering will increase our knowledge of the mechanisms responsible for the establishment of central T cell self-tolerance and will open novel strategies for managing many autoimmune diseases. APS-II is a more common syndrome characterized by adrenocortical insufficiency spontaneously occurring in non tuberculous adults and associated with autoimmune thyroiditis and/or type 1 diabetes. Contrary to APS-I, APS-II is linked to genetic loci of the major histocompatibility complex. There is no adrenal insufficiency in APS-III which includes autoimmune thyroiditis, type 1 diabetes, and other autoimmune extra-endocrine processes (like pernicious anemia and vitiligo).
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PMID:[Autoimmune polyendocrine syndrome (APS)]. 1256 2

To identify the prevalence of endocrine dysfunction in Iranians with beta-thalassaemia, we assessed thyroid, parathyroid, pancreatic and adrenal function in 150 beta-thalassaemic patients aged 10-22 years at the Paediatrics Unit, Shiraz University of Medical Sciences. Primary hypothyroidism was found in 6.0% of patients (mean age: 14.6 +/- 1.9 years), hypoparathyroidism in 7.3% (14.5 +/- 3.2 years), type 1 diabetes mellitus in 7.3% (13.9 +/- 2.8 years) and adrenal insufficiency in 1 patient. The relatively high frequency of endocrine dysfunction found in our study may be a result of poor disease control and management in early life when irreversible tissue damage occurs due to iron overload. These findings reinforce the importance of regular follow-up of patients with beta-thalassaemia major for early detection and management of associated complications.
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PMID:Prevalence of endocrine complications in beta-thalassaemia major in the Islamic Republic of Iran. 1556 33

Chemokines are a large family of cytokines involved in the pathogenesis of inflammatory and autoimmune diseases. Among CXC chemokines, CXC chemokine ligand 10 (CXCL10) has been identified to play an important role in several endocrinological autoimmune diseases, such as Hashimoto's thyroiditis, Graves' disease, and type 1 diabetes mellitus. Although the mechanisms leading to glandular autoimmune process may be at least in part shared by different endocrine organs, the role of CXCL10 in autoimmune adrenal insufficiency is unknown. The aim of this study was to evaluate the role of CXCL10 in Addison's disease (AD). Serum CXCL10 levels were assayed in 64 patients with clinically evident autoimmune AD, 20 patients with autoimmune subclinical AD, nine patients with nonautoimmune AD, and 48 healthy volunteers. Clinically evident and subclinical AD, but not nonautoimmune AD patients, showed a significant increase in serum CXCL10 levels compared with healthy subjects: 119.9 pg/ml (range, 39.8-427.6) and 124.0 pg/ml (range, 37.0-384.7) vs. 75.6 pg/ml (range, 22.4-164.0; P < 0.001 for both groups). Comparable serum CXCL10 levels were found between patients with an isolated form of AD and patients with other autoimmune conditions associated with AD, suggesting a specific influence of the adrenal autoimmune process in determining elevated CXCL10 concentrations in such patients. No relationship was found between serum CXCL10 levels and anti-21-hydroxylase or adrenal cortex autoantibody titers or between CXCL10 levels and duration of disease. The role of CXCL10 in the adrenal gland was also evaluated in vitro in human zona fasciculata cells (hZFC). CXCL10, although not basally detected in cultured hZFC, was strongly induced by interferon-gamma and synergistically increased by TNF-alpha addition. Hydrocortisone or ACTH alone had no effect on CXCL10 secretion in hZFC, but they both significantly inhibited cytokine-induced CXCL10 secretion. Taken together, these data suggest a potential role of hZFC, through the production of CXCL10, in regulating the recruitment of specific subsets of activated lymphocytes in autoimmune AD.
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PMID:Elevated serum interferon-gamma-inducible chemokine-10/CXC chemokine ligand-10 in autoimmune primary adrenal insufficiency and in vitro expression in human adrenal cells primary cultures after stimulation with proinflammatory cytokines. 1565 75

In order to study incidence and prevalence of autoimmune thyroid diseases (AITDs), we studied a retrospective cohort of 1,079 patients explored in the department of Endocrinology of Sfax (south of Tunisia). The overall incidence of AITDs was 9.9%. Mean age was 39.6+15 years; sex ratio 5 F/1M. Graves' disease was the most frequent (45%). Atrophic thyroiditis was present in 32.2% of patients and Hashimoto's thyroiditis in 22.8%. The incidence of AITDs increased from 1990 to 2000 and by 2003 it had fallen to 67 cases per year. TPO antibody was present in two-thirds of patients with Hashimoto thyroiditis, and half of those with atrophic thyroiditis. TG antibodies were less frequent (one-third of patients). Association with other autoimmune diseases was noted in 6.3% of patients: type I diabetes mellitus, adrenal insufficiency and vitiligo. Statistic analysis did not disclose any association between autoantibody levels and thyroid dysfunction. There was an association between TG antibody and TSH levels among patients with Graves' disease and between TG antibody level and age in atrophic thyroiditis patients (p<0.05); a correlation was also noted between these antibodies and other autoimmune diseases (p=0.05). It is difficult to assess the frequency of ATD in the clinical setting. Characteristic features of AITDs in patients seen in south Tunisia were found to be similar to those described in the literature. Other more large-scale representative studies would be useful to establish the epidemiology of AITDs in Tunisia.
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PMID:[Epidemiologic study of autoimmune thyroid disease in south Tunisia]. 1719 70

Autoimmune polyglandular syndromes are conditions characterised by the association of two or more organ-specific disorders. On the basis of the clinical picture, they are divided into four different types. Type 1 is a monogenic autoimmune syndrome, which is caused by defect in AIRE gene located on chromosome 21. Its major components include mucocutaneous candidiasis, hypoparathyroidism and Addison's disease. Type 2 is defined as the combination of autoimmune adrenal insufficiency with autoimmune thyroid disease and/or type 1 diabetes mellitus. Type 3 is composed of autoimmune thyroid diseases associated with other autoimmune conditions with the exception of Addison's disease. The remaining autoimmune combinations not included in the previous groups belong to type 4. Proper care of individuals with autoimmune polyendocrine syndromes requires knowledge of the problems that may arise, and the best approaches to detect and care for the manifestations of these incurable, but manageable, diseases. The objective of this paper is to review the aetiology, clinical manifestations, diagnosis and treatment of autoimmune polyglandular syndromes with a special emphasis on the most recent literature.
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PMID:[Autoimmune polyglandular syndromes]. 1914 Mar 88

Type 1 diabetes mellitus (T1DM) results from autoimmune destruction of insulin-producing beta cells and is characterised by the presence of insulitis and &and beta-cell autoantibodies. Up to one third of patients develop an autoimmune polyglandular syndrome. Fifteen to 30% of T1DM subjects have autoimmune thyroid disease (Hashimoto's or Graves' disease), 5 to 10% are diagnosed with autoimmune gastritis and/or pernicious anaemia (AIG /PA), 4 to 9% present with coeliac disease (CD), 0.5% have Addison's disease (AD), and 2 to 10% show vitiligo. These diseases are characterised by the presence of autoantibodies against thyroid peroxidase (for Hashimoto's thyroiditis), TSH receptor (for Graves' disease), parietal cell or intrinsic factor (for AIG /PA), tissue transglutaminase (for CD), and 21-hydroxylase (for AD). Early detection of antibodies and latent organ-specific dysfunction is advocated to alert physicians to take appropriate action in order to prevent full-blown disease. Hashimoto's hypothyroidism may cause weight gain, hyperlipidaemia, goitre, and may affect diabetes control, menses, and pregnancy outcome. In contrast, Graves' hyperthyroidism may induce weight loss, atrial fibrillation, heat intolerance, and ophthalmopathy. Autoimmune gastritis may manifest via iron deficiency or vitamin B12 deficiency anaemia with fatigue and painful neuropathy. Clinical features of coeliac disease include abdominal discomfort, growth abnormalities, infertility, low bone mineralisation, and iron deficiency anaemia. Adrenal insufficiency may cause vomiting, anorexia, hypoglycaemia, malaise, fatigue, muscular weakness, hyperkalaemia, hypotension, and generalised hyperpigmentation. Here we will review prevalence, pathogenetic factors, clinical features, and suggestions for screening, follow-up and treatment of patients with T1DM and/or autoimmune polyglandular syndrome.
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PMID:Type 1 diabetes and autoimmune polyglandular syndrome: a clinical review. 2000 14

Autoimmune polyglandular syndromes (APS) are rarely diagnosed conditions characterised by the combination of two or more autoimmune endocrinopathies and nonendocrine autoimmunopathies. They comprise a wide spectrum of autoimmune disorders, differing in the immunologic features of their pathogenesis. Based on their clinical manifestation, APS are divided into four different types. Primary hypoparathyroidism is characteristic for APS type 1, the major disease components of which are adrenal insufficiency, hypoparathyroidism, and candidiasis. However, the literature is sparse regarding the presence of hypoparathyroidism in the remaining types of APS. In our article, we present a case of a young female with primary hypoparathyroidism and a family history of autoimmune disorders who after several years developed type 1 diabetes. She also had anti-transglutaminase and anti-parietal cell antibodies. This constellation of two endocrine disorders and non-endocrine abnormalities led to the diagnosis of APS type 4. We show in details diagnostic and treatment strategies undertaken in our patient and their impact on the course of APS.
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PMID:[Atypical clinical presentation of autoimmune polyglandular syndrome type 4]. 2203 74

Endocrine emergencies during pregnancy can become life-threatening for both mother and fetus. In addition to some pregnancy-linked endocrine disorders, several pre-existing forms of endocrinopathy, such as Grave's disease, type 1 diabetes and adrenal insufficiency might deteriorate acutely during pregnancy. Early diagnosis and management are challenging because the classical symptoms are often modified by pregnancy. Laboratory tests are subject to altered physiological ranges and pharmacological options are limited while therapeutic goals are stricter than in the non-pregnant patient. This article focuses on endocrine emergencies complicating pregnancy.
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PMID:[Endocrine emergencies during pregnancy]. 2234 29

Autoimmune polyglandular syndromes (APSs) include a cluster of autoimmune and nonautoimmune conditions which have been classified into subtypes. APSs type 1 is characterized by at least two of the following: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and autoimmune Addison's disease (AD). We report the chronological history of a female patient who presented with features most consistent with APS type 1, along with growth hormone deficiency and juvenile rheumatoid arthritis (JRA). In terms of her autoimmune diagnoses, she first presented with JRA at three years of age, then hypocalcemia and hypoparathyroidism at five years of age, type 1 diabetes (DM 1) at age eleven years, adrenal insufficiency at age fourteen years, recurrent mucocutaneous candidiasis as a teenager, growth hormone deficiency at age fourteen years leading to significant short stature, primary amenorrhoea, and hypogonadism, and finally alopecia at age twenty-six years. In addition to this, she has suffered other nonautoimmune medical problems including a Tetralogy of Fallot with a surgical repair at age six years. On review of the medical literature, we found no other previously reported case with this unique combination of medical problems.
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PMID:Growth hormone deficiency, short stature, and juvenile rheumatoid arthritis in a patient with autoimmune polyglandular syndrome type 1: case report and brief review of the literature. 2236 78

When immune dysfunction affects two or more endocrine glands and other non-endocrine immune disorders are present, the polyglandular autoimmune (PGA) syndromes should be considered. The PGA syndromes are classified as two main types: PGA type I and PGA type II. We are reporting this case in which a patient had primary adrenal insufficiency, autoimmune hypothyroidism and insulin dependent diabetes mellitus and was diagnosed as "Schmidt's syndrome" (PGA type II). This syndrome is a very rare autoimmune disorder and difficult to diagnose because the symptoms of this syndrome depends on the gland which gets involved first. Our patient was treated and improved with corticosteroid, thyroxine and insulin therapy.
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PMID:Schmidt's syndrome - Case report. 2284 26


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