Overview.
Autoimmune disease of two or more endocrine glands can occur in the same patient, in some cases in combination with other autoimmune diseases, and is known as autoimmune syndrome of multiple endocrine glands (APS).
Etiology
APS is mainly categorized into the following types:
1. type
APS-I develops mainly in early childhood and is caused by mutations in the autoimmune regulatory gene (AIRE). It may have the following clinical manifestations: cutaneous mucosal candidiasis, hypoparathyroidism, Addison’s disease, ectodermal dysplasia, hypogonadotropic hypogonadism, pernicious anemia, type 1 diabetes mellitus, intractable constipation, hypothyroidism, splenelessness, diarrhea, and hepatitis.
2.Type II
APS-II is more common and refers to the occurrence of 2 or more of the following disorders in the same individual: autoimmune hypothyroidism, type 1 diabetes mellitus, Addison’s disease, vitiligo, pernicious anemia, alopecia areata, IgA deficiency, Graves’ disease, primary hypogonadism, myasthenia gravis, and ergotism.
3. Other APS
X-chain immune dysregulation polyendocrine gland disease enteropathy syndrome may manifest as early onset type 1 diabetes, enteropathy, hypothyroidism, lymphadenopathy, hemolytic anemia and thrombocytopenia.Type B insulin resistance syndrome is caused by anti-insulin receptor antibodies, which may be combined with autoimmune thyroid disease, secondary amenorrhea, etc.20%-50% of POEMS syndrome may have diabetes mellitus, and 55%-70% suffer from primary gonadal insufficiency, and 55%-70% suffer from primary gonadal insufficiency. 70% suffer from primary hypogonadism.
Symptoms
The clinical presentation of a patient with polyglandular deficiency syndrome is a composite of individual glandular defects. Individual glandular destruction occurs in no particular order.
In type I, the onset is often in childhood or before the age of 35 years. Hypoparathyroidism is most common, followed by adrenocortical failure. Chronic mucocutaneous candidiasis is common and diabetes mellitus is rare. It is usually autosomal recessive.
Type II glandular failure is usually seen in adults, peaking in the 30s, and involves the adrenal and thyroid glands (Schmitt syndrome) and pancreatic islets, producing insulin-dependent diabetes mellitus (IDDM). Anti-target organ antibodies are often present, especially anti-P450 cytochrome adrenocorticotropic enzyme. Some patients begin with symptoms and signs of hyperthyroidism.
Examination
1. Blood biochemistry
Hypoadrenocorticism may be associated with low blood sodium and mild hyperkalemia, while hypocalcemia and hyperphosphatemia may be present when combined with hypoparathyroidism. Blood glucose is often low and glucose tolerance curve is low.
2. Hormone measurement
Patients with primary hypocorticism may have lower blood and urine cortisol, lower urine UFC and higher ACTH level. In patients with parathyroidism, blood thyroid hormone (PTH) is undetectable or significantly reduced. In primary hypogonadotropic patients, blood follicle-producing hormone (FlH) and luteinizing hormone (LH) are elevated, and the levels of estradiol (E2) and testosterone are reduced or undetectable.
3. Pituitary hormone excitation target gland test.
4. Determination of anti-endocrine gland antibodies in the blood.
Measurement of anti-adrenal antibodies, anti-islet cell antibodies, anti-insulin antibodies, pancreatic islet 63.49 ku (64 kd) antibodies, parathyroid antibodies, anti-thyroid antibodies, anti-gastric lining cell antibodies, and antibodies to endoglandular factors can help in the etiologic diagnosis.
5. CT or MRI.
Diagnosis
Based on the above clinical manifestations and laboratory findings, the diagnosis is not difficult.
Treatment
The main measure of treatment is hormone replacement therapy to correct the insufficient hormone secretion.
1. Treatment of hypothyroidism
(1) General treatment Supplementation of iron, vitamin B12, folic acid, etc.
(2) Replacement therapy TH replacement therapy. Levothyroxine (L-T4, Letrox, Euthyrox) is taken orally, and the dosage is adjusted according to the measurement of thyroid function after 2~3 months for long-term maintenance. Dry thyroid: oral, adjust the dosage according to thyroid function measurement after 2～3 months for long-term maintenance.
(3) Mucous edema coma treatment Intravenous L-T3. change to oral when patient is awake. Those without injections are given T4 tablets or dry thyroid, administered via gastric tube and changed to conventional replacement therapy when awake. Appropriate fluid replacement and etiologic therapy.
2. Secondary hypogonadism treatment
Male patients can be treated with gonadotropin analogs, such as human chorionic gonadotropin or human menopausal gonadotropin. During testosterone replacement therapy, attention should be paid to the side effects of the drugs, such as testosterone aromatization to estradiol in the body, changing the ratio of serum testosterone to estradiol, breast tenderness or feminization of male breasts; exogenous testosterone can inhibit the release of gonadotropins and spermatogenesis in testes, and should be used with caution in infertile secondary hypogonadotropic patients. Liver function and blood erythrocytes should be tested periodically during treatment.
However multiple deficiencies (e.g., adrenocortical insufficiency combined with diabetes mellitus) interacting can complicate treatment. A patient with endocrine hypoplasia should be observed for the emergence of another glandular defect in subsequent years. Gonadal failure is not treated with gonadotropins and chronic mucocutaneous candidiasis is usually insensitive to treatment. Early in endocrine failure, immunosuppressive doses of cyclosporine may be beneficial in some patients.