Bilateral congenital adrenal hyperplasia
Introduction
Introduction to bilateral congenital adrenal hyperplasia Congenital defects in certain adrenal enzymes cause abnormal steroid production. Women cause false hermaphroditism and male genitals are huge. Enzyme defects are accompanied by excessive androgen products in the uterus of the fetus, which will develop normally in the female Müllerian catheter structure (ie, ovary, uterus, and vagina), while excess androgen exerts its male in the genitourinary and reproductive nodules. The effect of the vaginal and urethra is connected, and the enlarged clitoris is low and open. The labia are often hypertrophied, and severe cases have hypospadias and cryptorchidism. The adrenal cortex causes varying degrees of cortisol deficiency due to the majority of secreted anabolic male steroids. basic knowledge Sickness ratio: 0.05% Susceptible people: no special people Mode of infection: non-infectious Complications: hypospadias cryptorchidism
Cause
Bilateral congenital adrenal hyperplasia
The cause of this disease is not clear. Most scholars disagree with the pathogenesis of ACTH-dependent to non-dependent transition. It has been confirmed that AIMAH can be caused by factors other than ACTH. It has been found that abnormal expression of gastric inhibitory peptide (GIP), arginine vasopressin (AVP), and 2-adrenergic receptor in the adrenal gland can cause AIMAH.
Prevention
Bilateral congenital adrenal hyperplasia prevention
If diagnosed early, it will begin to inhibit ACTH secretion even before surgery to correct severe organ malformations. Then the appearance can be found normally and the development is excellent. Delayed treatment will inevitably lead to growth retardation, such as coronary heart disease, will die early in myocardial infarction. In some female pseudohermaphroditism, menstruation will come after treatment. When the deformity is not serious or after surgery, the patient may become pregnant and give birth.
Complication
Bilateral congenital adrenal hyperplasia complications Complications hypospadias cryptorchidism
Congenital defects in certain adrenal enzymes cause abnormal steroid production. Women cause false hermaphroditism and male genitals are huge. Enzyme defects are accompanied by excessive androgen products in the uterus of the fetus, which will develop normally in the female Müllerian catheter structure (ie, ovary, uterus, and vagina), while excess androgen exerts its male in the genitourinary and reproductive nodules. The effect of the vaginal and urethra is connected, and the enlarged clitoris is low and open. The labia are often hypertrophied, and severe cases have hypospadias and cryptorchidism. The adrenal cortex causes varying degrees of cortisol deficiency due to the majority of secreted anabolic male steroids.
Symptom
Bilateral congenital adrenal hyperplasia symptoms Common symptoms Post-puberty without semen testicular enlargement and hardening hermaphroditis Adrenal cortical benign... Male uterine amenorrhea adrenal hyperplasia testicular atrophy
Increased ACTH secretion causes bilateral adrenal hyperplasia. The hyperplastic cortex continues to synthesize androgen and hypertensive mineral corticosteroids in large quantities.
The lack of 20-22 carbon chain enzymes leads to rare congenital fatty adrenal hyperplasia, often with complete barriers to steroidogenesis. If there is not enough replacement therapy, the baby will die early.
The lack of 3-hydroxysteroid dehydrogenase isomerase leads to the synthesis of progesterone, aldosterone and cortisol, and dehydroepiandrosterone is overproduced. The unusual syndrome is characterized by hypotension, hypoglycemia and male pseudo sex. deformity. Women are uncommon hairy and have varying melanin.
Insufficient or lack of 21-hydroxylase can not convert 17-carboxyprogesterone to cortisol, the most common deficiency is two forms: (1) a variety of sodium, aldosterone low or lack; (2) common It is a non-sodium type, hairy, masculine, low blood pressure and pigmentation.
17-hydroxylase deficiency, most commonly seen in female patients, some to adulthood with low levels of cortisol, ACTH compensatory increase. Primary amenorrhea, sexually naive, few male pseudohermaphroditism. Excessive secretion of salt corticosteroids causes hypertension, mainly due to increased 11-deoxycorticosterone.
11-hydroxylase deficiency hindered the formation of cortisol and corticosterone, ACTH release was too high, resulting in deep melanin deposition, high blood pressure due to excessive secretion of 11-deoxycorticosterone, no obvious abnormalities.
Lack of 18-hydroxysteroid dehydrogenase, rare in skin disease, is caused by the specific block of the last step of aldosterone biosynthesis. Therefore, patients with more loss of urinary sodium, causing dehydration and hypotension.
After puberty, masculine manifestations such as hairy and amenorrhea are rarely found, and masculinity occurs by chance in middle age. This acquired abnormality of the adrenal mild enzyme is called benign masculinization of the adrenal cortex.
The newborn genital genitalia has severe hypospadias and cryptorchidism. The boy is mostly normal at birth. There are excessive androgen in the fetus in the uterus, so there is obvious abnormality.
Untreated patients develop hairy, muscular, amenorrhea, and breast development. The reproductive organs of male patients are unusually large. Excessive androgen inhibits the secretion of gonadotropins, causing testicular atrophy. In extremely rare cases, hyperplastic adrenal cortical remnants in the testicles increase and harden the testes, and the majority of patients have no semen after puberty. Due to adrenal hyperplasia, the height of the patient is soaring at 3 to 8 years old, which is much higher than that of children of the same age. About 9 to 10 years old, excessive androgen causes early fusion of the epiphysis, which causes the growth to terminate, and the patient is shorter after adulthood. Both men and women have provocative behaviors and increased sexual desires, and social problems and disciplinary problems are particularly prominent in some boys.
Examine
Examination of bilateral congenital adrenal hyperplasia
The level of urinary 17-ketosteroids is higher than that of normal age of the same sex. Early rise in progesterone levels in the urine (which is more sensitive than the level of urinary 17-KS, because progesterone is a precursor of androgen), elevated blood levels of 17-hydroxyprogesterone are the most sensitive indicators for children The chromosome check is normal. X-ray examination will find early bone age. Lateral urethra cystography will show the vagina, urethra and bladder. A highly hyperplastic adrenal gland can be seen on the CT scan. The urethra can see the vagina that opens to the posterior wall of the urethra, and can also enter the vagina and see the uterus.
Diagnosis
Diagnosis and diagnosis of bilateral congenital adrenal hyperplasia
diagnosis
Diagnosis can be based on medical history, clinical symptoms, and laboratory findings.
Differential diagnosis
Many congenital malformations affecting external genital development resemble adrenal syndrome, including:
(1) severe hypospadias and cryptorchidism.
(2) Non-adrenal female pseudo-hermaphroditism (due to excessive androgen or progesterone medications during pregnancy).
(3) Male pseudohermaphroditism.
(4) True hermaphroditism, these children are not ahead of any hormonal abnormalities, bone age and maturity.
