Disease Information for Polyglandular autoimmune disease

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Clinical Manifestations
Signs & Symptoms
Low Blood Pressure
Eunuchoid habitus/Eunuchoidism
Small/absent thyroid gland/sign
Small testes
Small/soft testes
Amenorrhea
Clinical Presentation & Variations
Presentation/Acquired Male Hypogonadism
Demographics & Risk Factors
Established Disease Population
Patient/Autoimmune disorder
Patient/Addisons/hypoadrenocorticism
Patient/Autoimmune polyglandular disease
Family History
Family history/Endocrine disorder
Sex & Age Groups
Population/Adult Aged Only
Population/Adult/all
Laboratory Tests
Abnormal Lab Findings - Decreased
Androgens (Lab)
Cortisol (Lab)
Estrogen, serum (Lab)
Testosterone Total (Lab)
Thyroxin/T4 (Lab)
Abnormal Lab Findings - Increased
ACTH/Corticotrpin/Adrenocortical Hypertrophic hormone (Lab)
Anti-Sperm Antibodies (Lab)
FSH/Follicle Stmulating Hormone/ICSH (Lab)
LH/Leutinizing Hormone (Lab)
TSH/Thyroid stimulating hormone (Lab)
URINE Leutininzing hormone
Associated Diseases & Rule outs
Associated Disease & Complications
Acute adrenal crisis/adrenocortical insufficiency
Addison's disease
Adrenocortical insufficiency
Anorchia/Hypoplasia testes
Anti-insulin receptor/agonist syndrome
Autoimmune disease
Endocrine dysfunction
Eunuchism
Glucocorticoid Deficiency
Hypogonadism, male
Hypoparathyroidism, primary
Hypoparathyroidism/secondary
Hypotension
Hypothyroidism (myxedema)
Menopause
Menopause/ovary disorder/seconday
Panhypopituitarism
Polyglandular autoimmune syndrome
Primary male hypogonadism/hypergonadotropic
Secondary female hypogonadism
Testicular atrophy
Autoimmune Addison's Disease
Disease Mechanism & Classification
Class
CLASS/Endocrine gland (category)
Pathophysiology
Pathophysiology/AIRE gene locus 21q22.3
Pathophysiology/Gene locus 21q22.3
Pathophysiology/Gene locus chromosome 21
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hypergonadotrophic hypogonadism
Pathophysiology/Primary Testicular Failure
Process
PROCESS/Allergy/collagen/autoimmune (category)
PROCESS/Autoimmune disorder (ex)
PROCESS/Endocrine/humoral disorders (category)
PROCESS/Vegetative-Autonomic/Endocrine (category)
Synonyms
Synonym
APS, Autoimm polyglandular failure, Autoimmune Polyendocrinopathies, Autoimmune polyendocrinopathy, Autoimmune polyendocrinopathy (disorder), Autoimmune polyglandular failure, Autoimmune polyglandular syndrome, deficiency polyglandular autoimmune, Lloyd's syndrome, PGA, Polyendocrine autoimmunity syn, Polyendocrine autoimmunity syndrome, Polyendocrinopathies Autoimmune, Polyendocrinopathy Autoimmune, Polyglandular autoimmune syndrome, polyglandular deficiency autoimmune, polyglandular syndrome autoimmune, syndrome autoimmune polyglandular, syndrome polyglandular autoimmune, Synonym/Multiple endocrine deficiency syndrome, Synonym/Multiple glandular deficiency syndrome
Definition

APECED Syndrome; Autoimmune Polyglandular Disease Type I

Autoimmune-Polyendocrinopathy-Candidias;PGA I, PGA II,

PGA III, Polyglandular Autoimmune Syndrome, Type I;

APECED Syndrome is a very rare genetic syndrome involving the autoimmune system; It is a combination of several distinct disorders and is defined as the subnormal functioning of several endocrine glands at the same time ; The acronym APECED stands for Autoimmune Polyendocrinopathy (APE), Candidiasis (C) and Ectodermal Dysplasia (ED); Autoimmune disease affecting one gland is frequently followed by the impairment of other glands; In this syndrome two major patterns of failure have been described; Type I affects children and adults younger than age 35; It is characterized by below normal secretion of the parathyroid gland (hypoparathyroidism--79%) and the failure of the adrenal cortex to secrete normal volumes of hormones (72%); About 60% of women and about 15% of men fail to mature sexually (hypogonadism); A persistant fungal infection (mucocutaneous candidiasisis) is common and chronic; Type II more frequently strikes adults with peak incidence at about 30 years; Almost invariably it involves the adrenal cortex with thyroid involvement somewhat less frequent; It may also involve the pancreatic islets producing an insulin-dependent diabetes mellitus; [NORD 2005]-----------------------------------------------

AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I;

APS I; HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS; POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED; AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT, INCLUDED; Gene map locus 21q22.3

Malabsorption and diarrhea can be very striking and even dominate the clinical picture ; Neufeld class 1,2,3: recognized 3 types of the polyglandular autoimmune syndrome, All with autoimmune Addison disease as part of a polyglandular autoimmune syndrome;

type I is also frequently associated with chronic active hepatitis, malabsorption, juvenile-onset pernicious anemia, alopecia, and primary hypogonadism. Insulin-dependent diabetes mellitus and/or autoimmune thyroid disease are infrequent; PGA II (Schmidt syndrome) is represented by patients who have Addison disease with autoimmune thyroid disease and/or insulin-dependent diabetes mellitus, but do not have hypoparathyroidism or candidiasis, although other autoimmune disorders may be present; PGA II is predominantly a disease of middle-aged females;

PGA III is represented by patients who have autoimmune thyroid disease and one or more other autoimmune disorders but do not have Addison disease; In autoimmune adrenal insufficiency, isolated hypoaldosteronism may occur as a transient state on the way to Addison disease

-------------- [OMIM/NIH 2005]----------------------

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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