Enlarged and hardened testicles

Introduction Residual adrenal cortical hyperplasia in the testicles will enlarge and harden the testes, and most patients have no semen after puberty. This symptom occurs in a rare case of bilateral congenital adrenal hyperplasia. Adrenogenital dysplasia (adrenogenitalsyndrome), is a congenital adrenal hyperplasia, is a recessive gene defect genetic disease, due to the synthesis of certain enzymes of adrenocortical hormone, the adrenal gland hydrocortisone, pituitary secretion of ACTH increased, Adrenal cortex proliferates excessive secretion of 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.

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

Testicular testicular biopsy

Clinical examination:

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.

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.

Differential diagnosis

Identification:

Many congenital malformations affecting external genital development resemble adrenal syndrome, including: (1) severe hypospadias and cryptorchidism, and (2) non-adrenal female pseudohermaphroditism (due to excessive androgen use during pregnancy) Or progesterone drugs), (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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