Adrenal dysgenesis

　　The cause of hyperplasia mainly occurs in the corticosterone-related areas. The sex hormones produced and secreted by the human adrenal glands account for the majority, with a very small amount of estrogen. During the normal development of the adrenal cortex, the normal function of enzymes is necessary to successfully complete the process. A lack of enzyme supply or a malfunction in its function affects the synthesis of corticosteroids, promotes the hyperplasia of the adrenal cortex, and thus increases the effect of androgens, which is like adding fuel to the fire. A large amount of androgenic corticosteroids causes female patients to transform towards masculinity. The cause of tumors is due to the secretion and accumulation of a large amount of sex hormone components in the body caused by tumors.

　　It often accompanies atrophy of the gonads, sexual dysfunction, amenorrhea in females, impotence and decreased libido in males. For girls, their appearance and demeanor are generally like boys, with dark skin, abundant hair, taciturn, clitoris like a penis, capable of erection, and large labia like scrotum. Their urethra is the opening of the urogenital sinus. Abnormal sexual characteristics in male infants during fetal development are mainly manifested by large external genitalia, followed by rapid growth, and by the age of 4-5 years, the physical and external genitalia of children are as large as adults. Those who develop normally before puberty at birth, the cause is mostly due to adrenal tumors. Complications may include the disappearance of subcutaneous fat, masculinization of the body, hypertrophy of the clitoris, low voice, shrinkage of breasts and uterus, cessation of menstruation, and decreased libido, etc.

　　Diagnosing this condition is not easy. Sometimes, even after thorough, careful, and time-consuming examinations, a conclusion cannot be reached. However, without a correct diagnosis and reasonable treatment, it is impossible. First, it is necessary to decide which type of patient needs a thorough examination. Generally speaking, those with obvious clinical manifestations requiring treatment need to be thoroughly examined. Of course, if a tumor is suspected, an examination is necessary; on the other hand, if symptoms appear in childhood or if symptoms develop suddenly in adulthood, it should be suspected that a tumor is involved:

　　One, in females:For female pseudohermaphroditism, the following examinations can be used to make a definitive diagnosis:

　　1. Microscopic examination of the cell nucleus shows positive chromatin, and karyotype analysis reveals an XX sex chromosome pattern.

　　2. Examination of the urogenital sinus reveals the presence of a vagina. If a cystoscope is used to examine the vagina, the cervix can be seen, and a catheter can be inserted through the cervix for uterine and fallopian tube imaging.

　　3. Biochemical tests show an excessive excretion of steroids in the urine.

　　Female pseudohermaphroditism can also be a result of androgens passed from the mother to the fetus through the placenta during pregnancy. These androgens can come from maleizing ovarian tumors or from the mother's medication with corticosteroids or synthetic progestins during pregnancy.

　　Two, in males:The nuclear chromatin is negative, the genetic type is XY, the amount of steroids excreted in the urine is increased, like females.

　　Three, differential diagnosis of hyperplasia and tumor:It is often not easy, a large tumor can be palpated, bilateral hyperplastic adrenal glands can also be palpated at birth, the dexamethasone suppression test for the hypothalamus may be helpful, the determination of urinary steroids may help in the diagnosis of cancer, hyperplasia, or tumor, the greatest difficulty is that the excretion of 11-OXOS in the urine can be normal when there is a tumor, fortunately, there is always one kind of steroid, and its value is increased, X-ray examination is sometimes helpful, if after various examinations, the tumor cannot be ruled out, surgical exploration is necessary.

　　This disease belongs to chromosomal disease, the etiology of chromosomal malformation is unclear, and may be related to environmental factors, genetic factors, dietary factors, and emotional and nutritional factors during pregnancy. Therefore, this disease cannot be prevented directly. Early detection, early diagnosis, and early treatment are of great significance for preventing this disease. Regular checks should be done during pregnancy, and if there is a tendency of abnormal development in the child, chromosome screening should be done in time, and if it is clear, timely artificial abortion should be performed to avoid the birth of children with the disease.

　　1. Microscopic examination of the nucleus, in females it is positive chromatin, in males it is negative chromatin, karyotype count, female karyotype is XX type, male is XY type.

　　2. Biochemical tests, there is an excessive amount of steroids excreted in the urine.

　　3. Female examination of the urogenital sinus, visible with vagina, if the urethroscope is used to examine the vagina, visible with cervix, and a catheter can be inserted through the cervix for uterine and fallopian tube造影.

　　In addition to clinical manifestations, the diagnosis of adrenal sexual signs abnormality also requires attention to the following aspects in diet: patients should eat less chicken, beef, mutton, silkworm pupae, etc. A reasonable diet should be maintained.

　　1. Treatment of androgenic hyperplasia or hyperandrogenic hyperplasia

　　Congenital or acquired androgenic hyperplasia can be treated with hydrocortisone, which inhibits the production of ACTH, thereby also reducing the secretion of androgens, and at the same time supplementing corticosteroids, which is what is lacking. Steroid therapy should not be used lightly for mild hirsutism and mild steroid metabolic abnormalities, as it can cause other dangers and has little effect on hair growth. However, it is indeed of great value for children with congenital hyperplasia and adult signs of disorder. A relatively large dose is started to achieve sufficient suppression of the adrenal glands, and then gradually maintained with small doses. In children during the growth period, the relationship between regulating treatment and bone development is very important. If the suppression is insufficient, growth will be rapid, but eventually will not be tall; if it is excessive, it will unnecessarily affect growth. Establish a growth card, regularly take X-rays to check the bones, to ensure the normal progress of development.

　　Hydrocortisone can be taken orally or by injection. It is best taken orally, as injection can cause pain in children and inconvenience in adults. Oral hydrocortisone is taken 3 to 4 times a day for its rapid effect. The oral dose is 2 to 3 times the intramuscular dose. The suppression dose for adults is 100 mg/day. For children under 2 years old, 20 to 30 mg/day is sufficient to achieve suppression within a few days, which can be confirmed by checking 17-OXOS in the urine, as shown in the following table:

　　Table 2: Normal values of 17-OXOS in 24-hour urine: adults 8-12 mg/24-hour urine, children 6-14 years old 4-6 mg/24-hour urine, 2-6 years old 2-4 mg/24-hour urine, and children under 2 years old 0.5-1 mg/24-hour urine.

　　The maintenance dose varies from patient to patient. For adults, it is generally 30 to 40 mg/day, and for children, 10 to 20 mg/day. For synthetic steroid drugs, the dosage may be smaller, but hydrocortisone or a combination of hydrocortisone with other synthetic drugs is preferred. To ensure ideal suppression of ACTH at night, it is often necessary to take prednisolone 5 or 7.5 mg or at 11 PM, followed by 2.5 mg at 7 AM and 3 PM the next morning, adjusting the dosage as needed, which is particularly important for children in their growth phase. Regularly re-examine 17-OXOS within 24 hours. This treatment is necessary for life.

　　In children with mild hyponatremia: congenital adrenal hyperplasia can be treated with hydrocortisone alone to maintain electrolyte balance, but it is often necessary to provide 2 to 5 grams of salt per month. In severe cases, additional fludrocortisone 0.05 to 0.1 mg may be required. Other salt-retaining hormones can also be used, such as a tablet of acetate desoxycorticosterone (DOCA) 125 mg injected intramuscularly every 9 to 12 months, or 2 mg of desoxycorticosterone pivalate (synthetic salt corticosteroid) injected intramuscularly every 3 to 4 weeks. Salt-retaining hormones should be continued until 3 to 4 years of age, after which they can be gradually reduced and eventually stopped.

　　For adults after puberty with mild hyperplasia and sexual dysfunction, synthetic hormones can be used for treatment. A dose of prednisolone 5 or 7.5 mg at 11 PM is sufficient.

　　Patients who have been on long-term corticosteroid suppression therapy have poor emergency response capacity and may develop acute adrenal cortex insufficiency. Therefore, when they are ill or undergoing surgery, additional hydrocortisone is required. This means that in untreated cases, an adult may not be aware of their adrenal insufficiency until a serious crisis occurs during a minor surgical procedure.

　　Treatment results

　　Patients who receive hormone treatment before the age of two have very satisfactory results. If appropriate suppressive treatment is maintained, growth and development are normal. Treatment after the age of two, after regular checks, the development of bones, can eventually reach the height based on the time of treatment initiation. Treatment can also eliminate the problem of masculinization.

　　After treatment, the female development appears quickly, breast enlargement, and normal menstruation. If treatment begins after puberty, it is difficult to grow taller. Hirsutism may gradually subside, but if hirsutism was very obvious before treatment, it is difficult to completely disappear. In this case, plastic surgery can be used, and normal sexual function and fertility in adults can be ensured. The breasts may enlarge, but the voice may be low, and facial hair may still be abundant. Normal pregnancy is possible, except for delivery, hydrocortisone is no longer used.

　　In boys, the development of the reproductive organs is blocked, and their growth is improved. The testes develop into maturity after puberty. Hydrocortisone treatment can continue until they are able to reproduce, and attention should be paid to adrenal insufficiency.

　　Surgical plastic treatment: The earlier the correction of pseudohermaphroditism in females, the better. Problems may occur in those raised as boys, often unable to receive timely treatment.

　　2. Treatment of Adrenal Tumors

　　Tumors should be resected as far as possible by surgery. After resection of the adenoma, it can often lead to complete recovery of health, although hirsutism may persist for a period of time. Cancerous tumors may be difficult to resect or may recur quickly after resection. Chemotherapy with O, P′DDD can be used, which can lead to temporary improvement, but the prognosis is poor.

　　Feminizing tumors are an extremely rare condition, caused by tumors that secrete female hormones from the adrenal glands or ectopic adrenal tissue. Tumors are often malignant, large, and often palpable. They often occur in adults and are often found in males. Histological examination of this tumor often has no distinction from other hormone-secreting adrenal tumors.

　　Clinical manifestations caused by excessive secretion of estrogen or gonadotropin. It inhibits the production of pituitary gonadotropin, leading to testicular atrophy, loss of libido, impotence, breast enlargement, and tenderness. However, there are few secretions in the breasts. The facial skin is delicate, and facial hair is reduced. There may be weight gain, and muscle development is not obvious.

　　As far as possible, surgical resection should be performed. If resection is not possible or recurrence occurs after resection, chemotherapy O, P′DDD may be used. Hydrocortisone treatment is not required. The prognosis is poor.

　　If the tumor removed is a benign tumor, it can be cured. However, the breasts cannot be completely reduced and can be treated with plastic surgery.