What Are the Different Types of Adrenal Gland Problems?

Elevated ACTH is caused by low levels of cortisol, while a decrease in cortisol is due to a lack or lack of one of five essential enzymes that synthesize cortisol from cholesterol. Blocking of each enzyme causes a characteristic kind of Lack and accumulation of adrenal hormone precursors. In the common type of congenital adrenal hyperplasia (CAH), pre-metabolic accumulation occurs near the block enzyme and is metabolized to adrenal androgens by bypass. When there is an enzyme block (e.g. 21 -Hydroxylase deficiency) causes congenital adrenal hyperplasia virilization during the accumulation of androgens, leading to varying degrees of virilization in the affected female fetus. If the blocked enzyme reduces the synthesis of androgens, it leads to insufficient virilization, leading to Insufficient virilization of the affected male fetus.

Adrenal gland syndrome

Adrenal gonadal syndrome Histological changes due to chronic ACTH elevation and systemic changes due to lack of cortisol products. For example, steroid 18-methyloxidase type II deficiency is characterized by typical aldosterone deficiency: chronic hyperkalemia and Low plasma aldosterone. No abnormal sexual differentiation exists.

Causes of Adrenal Gland Syndrome

Several autosomal recessive genetic diseases can cause CAH. Because the external genitalia of the affected infant is difficult to distinguish between sexes, it is difficult to distinguish between a baby boy who is under-masculine and a baby girl who is over-masculine by physical examination, but only for the preliminary diagnosis. Clues. The typical manifestation is a penis-like structure that is longer and larger than the clitoris but smaller than the penis. There is a single genitourinary sinus opening at the bottom of this penis, and the labia and scrotal fold have different degrees of incomplete fusion. The 17-hydroxyprogesterone level of> 8ng / ml can be diagnosed as CAH caused by 21-hydroxylase. To distinguish the different causes of CAH, ACTH stimulation test is required. Before intravenous injection of 250 g of synthetic ACTH, and 30 after injection Minutes, measuring the levels of adrenal hormone precursors separately, the elevation of different precursors and the ratio between them help diagnose the deficiency of each enzyme.

A few enzyme defects (such as late-onset 21- or 11--hydroxylase deficiency) that do not show significant virilization until later in childhood, adolescence, and adulthood. Symptoms include enlarged clitoris or penis, hirsutism, Seborrheic dermatitis, low voice, accelerated height growth but premature closure of epiphyses (growth plates on long bones) eventually lead to short stature, strong muscles, temporary baldness, amenorrhea and less menstrual periods in adults.

21- 21-hydroxylase deficiency in adrenal gland syndrome

90% of CAH is caused by this enzyme deficiency. Incidence rates range from 1/10000 to 1/15000 live births. Progesterone; 17-hydroxyprogesterone; dehydroepiandrosterone (DHEA), a weaker The masculinized androgens of affected infant girls; and increased products such as androstenedione, accompanied by low or lacking levels of plasma cortisol and aldosterone. Urine metabolites (17-ketosteroids and gestinol) of these precursors are higher than Normal. Decreased aldosterone secretion results in loss of salt, low sodium and high potassium, and increased plasma renin activity. When the enzyme is partially deficient, it does not show aldosterone deficiency, and the patient's sodium and potassium are still normal. This is more likely Sex is related to a single type of HLA. Diagnosis and treatment during pregnancy are ineffective. Carrying status (heterozygous) can also be diagnosed in childhood and adulthood.

Treatment of 21-hydroxylase deficiency is replaced with glucocorticoids (cortisone, cortisone acetate or prednisone), and mineralocorticoids if necessary to achieve a dynamic balance of sodium and potassium. The oral dose of pine (15 ~ 25mg / m2, divided into 3 doses) or prednisone (3 ~ 4mg / m2, divided into 2 doses) was adjusted to keep the precursor of adrenal androgen within the corresponding age range. Intravenous cortisone acetate, 18 to 36 mg / m3 every 3 days, can also be used for infants who have failed oral treatment. The purpose of treatment is to maintain normal plasma androstenedione, 17-hydroxyprogesterone and plasma renin activity, and to make urine Metabolites (17-ketosteroids and estrogen) also remain normal. Oral fludrocortisone (0.1 mg / d) can be taken orally if salt is lost. Infants often require oral salt supplementation. Close observation is required during treatment. Overtreatment with glucocorticoids can lead to iatrogenic Cushing's sign, manifested as childhood obesity, abnormal growth, and delayed bone age. Insufficient glucocorticoid treatment results in failure to inhibit ACTH, resulting in excessive androgen and manifested as childhood virilization and It grows at a high speed, and finally stops growing due to precocity, and eventually gets short. Compliance with treatment, closely monitor growth and read bone age every year. Affected female infants need surgery to rebuild, shrink the clitoris and establish a vaginal opening. Usually further surgery is performed after adulthood, and under proper care, attention to sexual psychological issues can be expected Have normal sexual life and fertility.

11- Adrenal gonad syndrome 11-hydroxylase deficiency

3% to 5% of CAH is caused by this enzyme deficiency. The characteristic steroid manifestation is an increase in 11-deoxycorticosterone (and 17-hydroxycorticosteroids in urine). Due to the mineralocorticoid activity of hydroxycorticosteroids, patients Shows salt retention and high potassium hypertension. Plasma renin activity is low. Male sex can occur. Cortisol is used for treatment, and mineralocorticoid must be used.

3- Adrenal gland syndrome 3-hydroxysteroid dehydrogenase deficiency

This rare abnormality results in the accumulation of DHEA and in peripheral tissues of the gland, it changes peripherally to testicular androgens. When necessary, treatment is also performed with glucocorticoids and mineralocorticoids.

-17- Cholesterol-Carbonase Deficiency and 17-alpha Hydroxylase Deficiency in Adrenal Gland Syndrome

These abnormalities lead to and under-masculinization of affected baby girls.

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Clinical manifestations of adrenal gland syndrome

The reticular zone secretes androgens, which are related to age and sex. May vary by gender and age:

1. Congenital adrenal hyperplasia and virilization: This condition is familial and has a genetic relationship, accounting for 1: 5000 in newborns. Both men and women can be affected in the same family. Under the stimulation of ACTH, their parents secrete too much Pregnanetriol from Huohuwang, affecting their children.

(1) In women: early signs of virilization can be like clitoral hypertrophy and urogenital wrinkle wall insufficiency after birth. This type of girl, a female pseudohermaphroditism, may be mistaken for a boy with hypospadias and testicular insufficiency. The internal reproductive organs are normal but remain infantile. Other signs of virilization during infant development, such as mammary gland health search, amenorrhea, ovarian cystic changes, such as Stein-Leventhal Syndrome (bilateral ovarian cystic changes).

(2) In boys: there are no abnormalities at birth, but after a few weeks or months, the penis begins to grow, with precocious puberty, but the scrotum and testes are not large. Because the androgen of the adrenal gland inhibits the action of the pituitary gonadotropin, this case is called Macrogenitosomia Pracecox. Such children are described as Infant Hercules.

(3) The same change in both sexes: regardless of boys and girls, bone development is abnormal at first. The boy initially grew fast, the ossification center appeared earlier, and the epiphyseal fusion was earlier than normal. Therefore, his height rarely exceeds 150 cm. Male sex manifestations are hirsutism (Hirsutism), good muscle development, larynx prominent voice, rough skin, greasy skin, acne, penis or clitoris, early sexual orientation consistent with its true gender.

2. Adrenal hyperplasia and adrenal dysfunction; there may be severe metabolic disorders, which are related to the lack of adrenal biochemistry, which may or may not cover this tendency of virilization. There are three clinical situations:

(1) Only masculine, this is the most common type.

(2) Male sex and adrenal insufficiency. The so-called salt-loss type is due to 3-Hydroxysteroid Dehydrogenase, or 11-hydroxylase is absent.

(3) virilization and hypertension: a type of rare health search due to the lack of 11-hydroxylase.

Adrenal insufficiency: Almost one-third of patients have adrenal insufficiency. Loss of Na + in the urine and loss of C1-, and masculinity. This situation can be seen within a week of birth and can last for weeks at best. This child is weak and expressionless, has difficulty feeding, vomiting, diarrhea, water loss, and died of circulatory failure. Adrenal crisis may accompany acute infection. Sudden death from cardiac arrest caused by high blood K + has been reported. This kind of health search is more common in baby girls. This is due to the obvious relationship accompanied by changes in the vulva. In the case of a baby boy, the penis has not yet enlarged enough to die, and the cause of the death is attributed to other conditions. The diagnosis is very important. Without proper diagnosis and treatment, children often die within one year.

High blood pressure: A small number of patients have high blood pressure, which can lead to enlarged hearts and heart failure, even in young children.

3. Adrenal gland abnormalities in children: If the signs of virilization appear in boys, the cause is almost always a tumor. Its clinical manifestations develop rapidly, unless the prenatal development is normal, as congenital prepubertal virilization is extremely rare in men. Enlarged testicles have also been reported, but rare cases of unknown cause are hyperplasia of the adrenal cortex. Biochemical examination is the same as the congenital type. Lesions may be all congenital

Adult female adrenal signs are abnormal: after puberty, the original lesions continue to be active, or a new lesion appears. Cortical hyperplasia is the most common source, occurring in the age of 18 to 20 years. The pathogen is the same as the congenital type due to the lack of 21-hydroxylase. Tumors are uncommon, and some are in adulthood. Clinical manifestations are different and can be of three types:

(1) Termination of feminization (Ddfeminization) health search is the result of hypothalamus and pituitary suppression and normal surface development. Menstruation is often regular in the first few years, and then gradually extended and decreased, ovulation stopped, infertility and continued Menopause follows. Sometimes menstruation is still regular, but complains of infertility. In severe cases, there is breast atrophy, subcutaneous fat loss, loss of female characteristics, and even vulvar atrophy, with the exception of the clitoris.

(2) Tissue masculine type: the role of androgens. Hairy is a common sign. Those with severe oily skin and severe acne have sound changes, muscle development and enlargement of the clitoris.

(3) Metabolic disorder type: This type is rare. There may be retention of salt and water, high blood pressure. Corticosteroid deficiencies can not be found in adults and metabolic disorders do not occur.

Hirsutism: Hirsutism is an important sign of abnormal adrenal glands. Hairy women can appear on the sides of the face and the upper lip, turning like a man. Women who are critically ill have to shave. There may be hair around the nipple, and there is hair on the midline of the chest and abdomen. Pubic hair is distributed like men. A few cases have hairy trunks and limbs, such as males. The hair is thick and fatty, and the man has black hair, such as older men.

Cushing's and adrenal abnormality mixed type: more rare, such as virilization with hypertension, diabetes, or, as described, Diabetes of Bearded Women. Hairy is also present in Cushing's syndrome. This type of mixed performance is more common in adrenal cortex cancer.

Clinical diagnosis of adrenal gland syndrome

Diagnosing adrenal abnormalities is not an easy health search. Sometimes after a thorough, careful, and time-consuming inspection, it is still impossible to draw conclusions. But without the correct diagnosis of the tank network, reasonable treatment is impossible. First decide what kind of patients need a thorough examination. Generally speaking, those whose clinical manifestations clearly require treatment, need to be fully examined. Of course, it may be necessary for the tumor to be examined; on the other hand, if symptoms occur in childhood or the onset of adult disease is rapid, the tumor should be suspected. The following questions need to be answered: Do you have adrenal dysfunction? If it has , is it hyperplasia? Or for tumors? If the tumor is benign? Malignant? On which side?

1. Health search in women: Female pseudohermaphroditism can be diagnosed based on the following tests:

(1) Microscopic examination of the nucleus showed positive chromatin. Chromosome count, sex karyotype is XX

(2) Examination of the genitourinary sinus shows a vagina. If the vagina is examined with a urethoscope, it can be seen that a cervix can be placed in the catheter through the cervix for uterine and fallopian tube imaging.

(3) Biochemical test, excessive sterol excretion in urine

Female pseudohermaphroditism can also be seen in the results of maternal androgen from the placenta during pregnancy. This androgen can come from a virilizing ovarian tumor, or from a pregnant mother receiving corticosteroids or synthetic progesterone medications

2. In men: nuclear chromatin-negative health search, its genetic type, increased sterols excreted in urine, such as women.

3. Differential diagnosis of hyperplasia and tumor: It is often not easy for a large tumor to reach, and the adrenal glands on both sides can also be found at birth. Dexamethasone inhibition of the hypothalamus may be helpful. Determination of urinary sterols can help diagnose cancer, hyperplasia, or tumor. The biggest difficulty is that the excretion of 11-OXOS in the urine can be normal during the tumor. Fortunately, there is always a health search for one of the sterols, and its value increases. X-ray examination is sometimes helpful. If multiple tumors cannot be ruled out, surgical exploration is necessary.