Overview.
Polyglandular deficiency syndrome is an autoimmune polyglandular syndrome (polyendocrine deficiency syndrome) in which several endocrine glands become hypoglandular at the same time.
Causes
Endocrine defects can be caused by infections, infarcts, or tumors that result in the destruction of all or most of the glands. However, most often endocrine gland failure is the result of an autoimmune response that produces inflammation, lymphocytic infiltration, and partial or complete destruction. Autoimmune disease affecting one gland often follows damage to another gland resulting in multiple endocrine gland failure.
Symptoms
The clinical picture of a patient with polyglandular deficiency syndrome is a composite of individual glandular defects. Individual glandular destruction occurs in no particular order.
1. Type I
The onset of the disease is often in children or before the age of 35. Hypoparathyroidism is most common (79%), followed by adrenocortical failure (72%). Gonadal failure occurs after puberty in 60% of females and about 15% of males. Chronic mucosal candidiasis is common and diabetes mellitus is rare. This type can be associated with HLAA3, A28 or a locus on chromosome 21 and is usually autosomal recessive.
2. Type II
Glandular failure is usually seen in adults, peaking in the 30’s, and always involves the adrenal glands and, more commonly, the thyroid gland (Schmitt’s syndrome) and the pancreatic islets, producing insulin-dependent diabetes mellitus (IDDM). Anti-target organ antibodies are often present, especially anti-P450 cytochrome adrenocorticotropic enzyme. However, the damaging glandular effects are unclear. Some patients begin with thyroid excitatory antibodies and have signs and symptoms of hyperthyroidism. Glandular destruction is primarily cell-mediated autoimmunity or due to suppression of suppressive T-cell function, or some other T-cell-mediated damage. In addition, reduced systemic T-cell-mediated immunity is common and is manifested by a low response to skin tests for standard antigens, such as candidin (from Candida), tinea versicolor (from Tinea versicolor), and tuberculin. Inhibitory responses are also seen in approximately 30% of first-generation relatives with normal endocrine function, suggesting that the specific HLA-type characteristics of type II are accompanied by a susceptibility to certain induced destructive reactive viruses.
3. Type III
Type III occurs in adults and does not involve the adrenal glands, but includes at least two of the following symptoms: thyroid defects, IDDM, pernicious anemia, vitiligo, and pemphigus. Because type III differs in the absence of adrenal insufficiency, if adrenal failure occurs, it becomes type II.
Examination
1. Blood biochemical examination
Hypoadrenocorticism can be combined with low blood sodium, mild hyperkalemia, combined with hypoparathyroidism can have low blood calcium, high blood phosphorus. Blood glucose is often low and glucose tolerance curve is low.
2. Hormone measurement
In primary hypocorticism, blood and urine cortisol, urine 17-hydroxysteroid decrease, and ACTH level increase. In patients with parathyroidism, blood thyroid hormone (PTH) is undetectable or significantly reduced. Primary hypogonadotropic hypogonadotropic patients blood follicle stimulating hormone (FSH), luteinizing hormone (LH) increased, estradiol (E2) and testosterone levels decreased or undetectable, 17-keto steroid levels decreased.
3. Pituitary hormone excitation target gland test
The test has the most diagnostic value. Blood cortisol is not elevated in primary hypoadrenocorticism after AcTH injection. In primary hypogonadotropic hypogonadotropic hypogonadotropic hypogonadotropic hypogonadotropic hypogonadotropic hypogonadotropic hypogonadotropic hypogonadotropic hypogonadism, blood cortisol does not rise after injection of AcTH.
4. Measurement of anti-endocrine gland antibodies in 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
Diagnosis can be made on the basis of etiology, clinical manifestations and laboratory tests.
Treatment
The main measure of treatment is hormone replacement therapy to correct the insufficient hormone secretion.
1. Treatment of hypothyroidism
(1) General treatment: Supplement iron, vitamin B12, folic acid, etc. For loss of appetite, supplement dilute hydrochloric acid.
(2) Replacement therapy TH replacement therapy. Levothyroxine (L-T4, Letrox, Euthyrox), take at once, adjust the dosage according to the measurement of thyroid function after 2 to 3 months for long-term maintenance. Dry thyroid, take at once, adjust the dosage according to thyroid function measurement after 2~3 months for long-term maintenance.
(3) Treatment of mucous edema coma Intravenous L-T3, changed 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. Treatment of secondary hypogonadism
Male patients can be treated with gonadotropin analogs, such as human chorionic gonadotropin or human menopausal gonadotropin. During testosterone replacement therapy, the side effects of the drugs should be noted, such as aromatization of testosterone to estradiol in vivo, which changes the serum testosterone to estradiol ratio and may result in breast tenderness or feminization of the male mammary glands; exogenous testosterone may inhibit the release of gonadotropins and spermatogenesis in the testes, so it should be used with caution in infertile secondary hypogonadotropic patients. Liver function and blood erythrocytes should be tested periodically during treatment.
However, patients with multiple defects (e.g., adrenocortical insufficiency combined with diabetic interactions can complicate treatment) should be observed for the emergence of another glandular defect in subsequent years, gonadal failure is not effectively treated with gonadotropins, and chronic mucocutaneous candidiasis is usually insensitive to treatment, and the immunosuppressant cyclosporine may be beneficial in some patients in the early stages of endocrine failure.