Bilateral adrenal hyperplasia

Introduction Adrenal hyperplasia, also known as adrenal genital syndrome or adrenal hypermutation, is a congenital defect of certain adrenal enzymes that causes 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.

Cause

Mainly due to the lack of enzymes in different parts of the adrenal cortex biosynthesis process, the glucocorticoids and mineralocorticoids are reduced due to blood cortisol levels, and the negative feedback is eliminated, so that the secretion of ACTH is increased in the anterior pituitary, which stimulates the adrenal gland quality and leads to the cortex. Hormone synthesis is not normal. 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.

an examination

Related inspection

Static imaging of cortisol releasing hormone (CRH) stimulation test

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 synthetic barriers to progesterone, aldosterone and cortisol, and dehydroepiandrosterone is overproduced. This unusual syndrome is characterized by hypotension, hypoglycemia and male leave. Sexual 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) more common The non-sodium type, hairy, masculine, hypotension and pigmentation are common.

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 most 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.

[Auxiliary inspection]

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.

Differential diagnosis

Many congenital malformations affecting external genital development resemble adrenal syndrome, including: (1) severe hypospadias and cryptorchidism; (2) non-adrenal female pseudohermaphroditism (due to excessive androgen use during pregnancy) Or progesterone). (3) male pseudohermaphroditism, (4) true hermaphroditism, these children are not ahead of any hormonal abnormalities, bone age and maturity.

Hypospadias: The urethral ectopic opening in the ventral side of the urethra is called hypospadias. The hypospadias opening can occur anywhere from the perineum to the penis head. The distal end of the external urethra, the urethra and surrounding tissues are underdeveloped, and the formation of a fiber cord involves the penis, causing the penis to bend to the ventral side. Congenital penile curvature is not all of the hypospadias, but the hypospadias have different degrees of penile curvature.

Cryptorchidism: development, the testicle begins to descend from the retroperitoneal lumbar, and falls into the scrotum at the end of the fetus. If it is hindered during the decline, cryptorchidism is formed. The results show that the chance of developing cryptorchidism is 1-7%, of which unilateral cryptorchidism patients are more than bilateral cryptorchidism patients, especially the right cryptorchidism is more common, 25% of cryptorchidism is located in the abdominal cavity, 70% stay In the groin, about 5% stay above the scrotum or other parts.

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