Benign masculinization of adrenal cortex

Introduction 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. Adrenogenital syndrome, which is a congenital adrenal hyperplasia, is a recessive genetic defect genetic disease. Due to the incomplete synthesis of certain enzymes of adrenocortical hormone, the adrenal gland produces hydrocortisone, pituitary The secretion of ACTH is increased, and the adrenal cortex proliferates and secretes too much androgen, which makes the fetus of the female fetus genital, and the amount of 17-ketone in the urine of the patient increases. Congenital defects in certain adrenal enzymes cause abnormal steroid production. Women cause false hermaphroditism and male genitals are huge. 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.

Cause

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 gastric inhibitory peptide (GIP) arginine vasopressin (AVP) 2-adrenergic receptor is abnormally expressed in the adrenal gland and can cause AIMAH. The most common type of congenital adrenal hyperplasia is 21 hydroxylase deficiency, accounting for more than 95%. The 21 hydroxylase gene was cloned and localized to the human leukocyte antigenic site on chromosome 6, and 95% of patients with congenital adrenal hyperplasia had a 21 hydroxylase gene deletion. It is now possible to use the polymerase chain reaction (PCR) probe to diagnose point mutations or deletions early in the blastocyst stage; early diagnosis is very important, otherwise the loss-of-salt type patients may be life-threatening. In patients with a family history, a clear diagnosis can be started from the early pregnancy. If the intrauterine injection of steroids is started at 6 weeks of pregnancy, it is very effective in preventing male genital genitalization. In the future it will be possible to adopt a normal embryo selection and implantation technique as a treatment strategy. After birth, it can inhibit the secretion of ACTH by supplementing a sufficient amount of adrenocortical hormone to inhibit excessive production of androgen in the adrenal gland, maintain electrolyte balance and prevent premature healing of the epiphysis. Pay attention to growth and bone age during treatment. External genital malformations require surgical orthopedics, including clitoris reduction of the clitoris blood vessels and nerves, vaginal and vulvar prosthetics. In adulthood, ovulation can be induced by adjusting the dose of adrenocortical hormone to achieve pregnancy.

an examination

Related inspection

Adrenal cortex imaging adrenal MRI epinephrine test

1. Check for external genital malformations: For the newborns suspected of 21-hydroxylase deficiency, the urethra must be clearly identified and the gonads in the inguinal canal, labia or scrotum should be carefully palpated. Laboratory tests include at least the basic serum 17-OHP, preferably ACTH1 ~ 24 excitatory test, intravenous ACTH1 ~ 24250g, pre-dose (ml) and serum 17-OHP 1h after administration. The 17-OHP base value usually exceeds 100 ng/ml. Loss of salt patients can reach up to 220 nmol/L (1000 ng/ml) after ACTH excitation. The level of 17-OHP in patients with simple masculinization is lower, but it partially overlaps with patients with salt loss. Non-classical patients usually require an ACTH stimulation test to diagnose. In newborns, these tests must be postponed until 24 hours after birth. These tests can identify defects in the steroid hormone synthesis process in the adrenal gland. After the examination is completed, the child's vital signs must be monitored to see if there is an adrenal crisis. Although the salt loss crisis rarely occurs within 7 days of birth, many doctors check electrolytes in the first week of neonatal examination to see if there is hyponatremia and hyperkalemia in CAH newborns.

2. Check for rapid karyotype analysis and pelvic and abdominal ultrasound examinations that are helpful for understanding the causes of genital malformations. After the initial inspection, the next inspection is carried out in a targeted manner. Disease data should be analyzed as soon as possible, and family members should be advised on gender and drug/surgical treatment.

3. Further biochemical examination

(1) ACTH124 excitement test. (2) Inspection of salt loss. (3) Other hormones used to diagnose and monitor 21-hydroxylase deficiency.

Differential diagnosis

It needs to be distinguished from the following symptoms:

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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