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Autoimmune Polyendocrinopathies (Schmidt Syndrome)

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Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present.

Also Known As:

Schmidt Syndrome; Schmidt's Syndrome; Autoimmune Polyendocrinopathy; Polyendocrinopathies, Autoimmune; Autoimmune Polyglandular Syndrome Type I; Autoimmune Polyglandular Syndrome Type II; Autoimmune Polyglandular Syndrome, Type 1; Polyglandular Autoimmune Syndrome, Type 1; Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy; Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophies; Polyendocrinopathy, Autoimmune; Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophies, Autoimmune; Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune; Schmidts Syndrome; Syndrome, Schmidt's; Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy; Autoimmune Syndrome Type I, Polyglandular; Autoimmune Syndrome Type II, Polyglandular; Polyglandular Type I Autoimmune Syndrome; Polyglandular Type II Autoimmune Syndrome

Networked: 141 relevant articles (4 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypoparathyroidism
2.	Hypothyroidism
3.	Thyroiditis
4.	Osteoporosis
5.	Addison Disease (Addison's Disease)

Experts

1.	Peterson, Pärt: 3 articles (12/2014 - 01/2002)
2.	Kämpe, Olle: 3 articles (01/2012 - 06/2002)
3.	Perheentupa, J: 3 articles (12/2009 - 12/2000)
4.	Perheentupa, Jaakko: 3 articles (03/2009 - 01/2002)
5.	Anderson, Mark S: 3 articles (05/2008 - 11/2006)
6.	Strassburg, C P: 3 articles (07/2005 - 05/2000)
7.	Manns, M P: 3 articles (07/2005 - 05/2000)
8.	Peterson, P: 3 articles (07/2000 - 06/2000)
9.	Lehman, Heather K: 2 articles (09/2015 - 04/2008)
10.	Kisand, Kai: 2 articles (12/2014 - 12/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autoimmune Polyendocrinopathies:

1.	AntibodiesIBA 05/11/1991 - "Organ-specific cardiac antibodies were detected in significantly more of the patients with autoimmune polyendocrinopathy (28 [17%]) than of those with autoimmunity confined to one gland (1 [1%]) or of normal subjects (7 [3.5%]; p = 0.0001). " 05/11/1991 - "Organ-specific cardiac antibodies: serological markers for systemic hypertension in autoimmune polyendocrinopathy." 12/01/2015 - "Findings for antiadrenal and antithyroid antibodies were positive, allowing the diagnosis of autoimmune polyglandular syndrome type II. Adrenal insufficiency is a rare disease, especially in children, and its clinical manifestations are due to glucocorticoid and mineralocorticoid deficiency. " 01/01/2000 - "The significance of the antibodies observed outside the context of paraneoplastic syndromes is not well understood, but the anti-GAD antibodies associated with progressive cerebellar disorders and autoimmune polyendocrinopathies could be an expression of the autoimmune nature of certain neurological degenerative processes affecting the central nervous system." 05/11/1991 - "Patients with autoimmune polyendocrinopathy can have organ-specific cardiac antibodies, which may represent novel serological markers for an autoimmune form of systemic hypertension in the absence of overt cardiac disease."
2.	Thyroxine (Levothyroxine)FDA LinkGeneric 06/01/2000 - "[Manifestation of adrenal insufficiency after administration of levothyroxine in a patient with polyglangular autoimmune syndrome type II (Schmidt-syndrome)]." 10/01/2001 - "This confirmed the diagnosis of Schmidt syndrome as part of polyglandular autoimmune disease (PGAS) type II. After another 18 months of treatment with hormone substitution of L-thyroxine and hydrocortisone, the hyperpigmentation resolved and the hyperpigmented nevi decreased in number." 10/01/1987 - "Anti-thyroid antibodies were present in high titer, supporting the diagnosis of Hashimoto's thyroiditis, and hence of autoimmune polyglandular syndrome type II. The patient was not submitted to thyroxine therapy, and during cortisol replacement thyroid function improved, as judged by normalization of basal and stimulated thyrotropin and elevation of thyroid hormone levels. "
3.	Parathyroid Hormone (Parathormone)IBA 01/01/2001 - "We describe a 16-year-old girl with autoimmune polyglandular syndrome type 1 including hypoparathyroidism, who had osteoporosis that improved rapidly with parathyroid hormone replacement therapy. " 09/01/2014 - "To compare the response with synthetic human parathyroid hormone (PTH) 1-34 delivered by twice-daily injection vs insulin pump in children with severe congenital hypoparathyroidism due to calcium receptor mutation or autoimmune polyglandular syndrome type 1. Children and young adults aged 7-20 years with congenital hypoparathyroidism (N = 12) were randomized to receive PTH 1-34, delivered either by twice-daily subcutaneous injection or insulin pump for 13 weeks, followed by crossover to the opposite delivery method. " 01/01/2010 - "Previously, we have demonstrated the presence of anti-calcium-sensing receptor (CaSR) antibodies in patients with autoimmune polyglandular syndrome type 1 (APS1), a disease that is characterized in part by hypoparathyroidism involving hypocalcemia, hyperphosphatemia, and low serum levels of parathyroid hormone. "
4.	Ketoconazole (Nizoral)FDA LinkGeneric 01/01/1986 - "Ketoconazole is effective against the chronic mucocutaneous candidosis of autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED)." 01/01/1986 - "Ketoconazole was administered as a single daily oral dose of 200 mg to 12 patients with chronic mucocutaneous candidosis (CMC) of autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED). " 07/01/1982 - "Ketoconazole in the treatment of chronic mucocutaneous candidiasis secondary to autoimmune polyendocrinopathy-candidiasis syndrome." 03/01/2003 - "Terbinafine effectiveness in ketoconazole-resistant mucocutaneous candidasis in polyglandular autoimmune syndrome type 1."
5.	Hydrocortisone (Cortisol)FDA LinkGeneric 07/01/2010 - "She was started on hydrocortisone and felt tremendously better A diagnosis of Addisons disease was made (in view of hypothyroidism as a part of Autoimmune Polyglandular Syndrome type II). " 10/01/2001 - "This confirmed the diagnosis of Schmidt syndrome as part of polyglandular autoimmune disease (PGAS) type II. After another 18 months of treatment with hormone substitution of L-thyroxine and hydrocortisone, the hyperpigmentation resolved and the hyperpigmented nevi decreased in number." 10/01/1987 - "Anti-thyroid antibodies were present in high titer, supporting the diagnosis of Hashimoto's thyroiditis, and hence of autoimmune polyglandular syndrome type II. The patient was not submitted to thyroxine therapy, and during cortisol replacement thyroid function improved, as judged by normalization of basal and stimulated thyrotropin and elevation of thyroid hormone levels. "
6.	HormonesIBA 10/01/2001 - "This confirmed the diagnosis of Schmidt syndrome as part of polyglandular autoimmune disease (PGAS) type II. After another 18 months of treatment with hormone substitution of L-thyroxine and hydrocortisone, the hyperpigmentation resolved and the hyperpigmented nevi decreased in number." 10/01/1987 - "Anti-thyroid antibodies were present in high titer, supporting the diagnosis of Hashimoto's thyroiditis, and hence of autoimmune polyglandular syndrome type II. The patient was not submitted to thyroxine therapy, and during cortisol replacement thyroid function improved, as judged by normalization of basal and stimulated thyrotropin and elevation of thyroid hormone levels. "
7.	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 10/01/1987 - "Anti-thyroid antibodies were present in high titer, supporting the diagnosis of Hashimoto's thyroiditis, and hence of autoimmune polyglandular syndrome type II. The patient was not submitted to thyroxine therapy, and during cortisol replacement thyroid function improved, as judged by normalization of basal and stimulated thyrotropin and elevation of thyroid hormone levels. "
8.	CortisoneIBA 01/01/1980 - "Cortisone-induced remission of hypothyroidism in Schmidt's syndrome."
9.	type 1 Autoimmune polyendocrinopathy syndromeIBA 02/01/2005 - "The aim of this study was to determine whether a similar finding could be detected in a group of 11 paediatric and young adult patients suffering from autoimmune polyglandular syndrome type 1 (APS1), also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), as very few data have previously been reported in this field. " 12/01/1997 - "Autoimmune polyglandular syndrome type I (APS 1, also called APECED) is an autosomal-recessive disorder that maps to human chromosome 21q22.3 between markers D21S49 and D21S171 by linkage studies. " 01/01/2014 - "Autoimmune polyendocrine syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy, is a rare autosomal recessive disease due to pathogenic variants in the AIRE gene. " 08/01/2009 - "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named autoimmune polyglandular syndrome type 1 (APS-1), is distinguished from autoimmune polyglandular syndrome 2 (APS-2). " 11/01/2007 - "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessively inherited disorder characterized by variable combinations of endocrine and nonendocrine symptoms. "
10.	AutoantibodiesIBA 01/01/2002 - "Autoimmune polyglandular syndrome type 1 (APS-1) is a disease associated with defects of the autoimmune regulator gene and is characterized by autoimmune lesions of several tissues, predominantly endocrine glands, with multiple autoantibodies. " 07/01/1996 - "There have been only four previous reports of Schmidt's syndrome with sarcoidosis, and a possible fifth with negative autoantibodies. " 05/11/1991 - "Among the patients with autoimmune polyendocrinopathy, the prevalence of systemic hypertension was higher in those with cardiac autoantibodies than in those without (5/28 [18%] vs 2/80 [3%]; p = 0.01); the same was true for a family history of hypertension (11 [42%] vs 5 [7%]; p = 0.0001). " 08/01/1986 - "A stimulation test with 15 mU bTSH/kg was performed in three patients with Schmidt's syndrome (coexisting Addison's disease and manifest primary hypothyroidism), 15 patients with either subclinical hypothyroidism or increased titres of thyroid autoantibodies, 10 patients without thyroid involvement, and 10 normal controls. " 06/01/2013 - "Gain-of-function mutations, on the other hand, result in the hypocalcemic disorders of autosomal dominant hypocalcemia and Bartter syndrome type V. Moreover, autoantibodies directed against the extracellular domain of the CaSR have been found to be associated with FHH in some patients, and also in some patients with hypoparathyroidism that may be part of autoimmune polyglandular syndrome type 1. Studies of disease-causing CASR mutations have provided insights into structure-function relationships and highlighted intra-molecular domains that are critical for ligand binding, intracellular signaling, and receptor trafficking. "

Therapies and Procedures

1.	Transplants (Transplant) 02/01/2012 - "We conclude that the recipient developed autoimmune polyglandular syndrome type II after bone marrow transplant from his father, who was probably affected by the same syndrome." 02/01/2012 - "Autoimmune polyglandular syndrome type II after bone marrow transplant: real transfer or acceleration of a programmed disease?" 02/01/2012 - "We report a case of autoimmune polyglandular syndrome type II that developed in an 11-year-old boy with homozygous sickle cell disease after allogeneic bone marrow transplant; the donor was his father, who was human leukocyte antigen identical and had vitiligo. "
2.	Liver Transplantation 04/01/2002 - "Orthotopic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1."
3.	Plasmapheresis 01/01/1997 - "[A case of the successful use of plasmapheresis in the combined treatment of a female patient with autoimmune agranulocytosis against a background of Schmidt's syndrome]."
4.	Laminectomy 11/01/2004 - "Schmidt's syndrome presenting during laminectomy."
5.	Subcutaneous Injections 09/01/2014 - "To compare the response with synthetic human parathyroid hormone (PTH) 1-34 delivered by twice-daily injection vs insulin pump in children with severe congenital hypoparathyroidism due to calcium receptor mutation or autoimmune polyglandular syndrome type 1. Children and young adults aged 7-20 years with congenital hypoparathyroidism (N = 12) were randomized to receive PTH 1-34, delivered either by twice-daily subcutaneous injection or insulin pump for 13 weeks, followed by crossover to the opposite delivery method. "