Congenital abnormalities of testicular development directly affect male fertility. It should be noted that the reason for this outcome lies not only in the specific pathophysiological alterations of the disorder itself, but also in the varying degrees of psychological stress that the disorder causes to the patient.
Congenital malformations of the testes.
Congenital malformations of the testes include abnormal development of the testes themselves and abnormal testicular position. Testes with abnormal position are often accompanied by testicular developmental disorders. The most common congenital anomalies of the testis that result are: absence of testis, testicular hypoplasia, testicular fusion, cryptorchidism, multiple testes, and testicular epididymal separation. All of the above congenital anomalies can interfere with or destroy the normal physiological function of the testes and affect the sexual function and reproductive ability of the patient.
Congenital abnormalities of the testes.
Numerical anomalies
Multiple testes: This malformation is the result of abnormal division of the intra-genital epithelial cell population. It is not rare clinically and usually consists of three
monorchidism: only one testicle is present and intra-abdominal cryptorchidism should be noted
Anorchidism: absence of the testis, loss of both reproductive and sexual capacity.
Abnormal position
Cryptorchidism: one or both testicles are not in the scrotum and are more common
Ectopic testis: on the way of descending, the testis encounters resistance after exiting the subcutaneous ring and is unable to enter the scrotum and slides towards the nearby tissues. It can enter in front of the tendon membrane of the external oblique abdominal muscle, the root of the penis, and the perineum.
Testicular and epididymal non-connection
This condition is often complicated with undescended testes and presents with an orchidless malformation. Only the epididymis or vas deferens is present in the scrotum.
Testicular hypoplasia.
The incidence is about l/200-1/500 in men, and it accounts for a high percentage of male gonadal dysplasia and infertility. The main features are small testes, fibrous and vitelliform changes of the varicocele, infantile genital organs, non-existent secondary sexual characteristics, and infertility. The karyotype is often 47XXY or 46XY/47XXY chimeric malformation.
Patients have tender skin, white face, inconspicuous laryngeal nodes, thin voice, no axillary or pubic hair, short penis (less than 3 cm), small testes, undeveloped prostate and seminal vesicle glands.
Treatment
Before puberty, gonadotropin is injected as replacement therapy to promote the development of secondary sex characteristics. 500-2000 units of chorionic gonadotropin can be used twice a week for 10 consecutive times as a course of treatment, and more than one course of treatment can be given according to the actual situation.
After puberty, androgens can be used to maintain sexual function. Testosterone propionate 25 mg, twice a week, can be used continuously.
Testicular transplantation, which can maintain sexual function for a longer period of time, but does not produce sperm. The technique is not yet mature.
Intersexual malformations.
Although the incidence of intersexual malformations, although not high, it is necessary to understand them because they not only produce sexual and reproductive dysfunction, but also are much discriminated among the masses.
Humans normally have 46 chromosomes, of which 22 pairs are autosomes. The pairs are sex chromosomes. The sex chromosomes are XY in males and XX in females, and when fertilization occurs, the sperm contains Y. The fertilized egg will have XY chromosomes and will develop into a male; if it has X, the fertilized egg will have XX chromosomes and will develop into a female. Therefore, the birth of a male child depends on the sex chromosome of the male sperm. At 6-7 weeks of embryonic life, the fertilized egg is in a neutral state and the gonads are both male and female, with the outer cortex having the characteristics of ovarian tissue and the inner medulla having the characteristics of testicular tissue. When the sex chromosome is XY, the medulla differentiates toward the testes, the cortex degenerates, and the genital germ develops into the penis and scrotum; if the sex chromosome is XX, the cortex differentiates toward the ovaries, the medulla degenerates, and the genital germ develops into the fallopian tubes, uterus, and vagina.
Classification
Pseudohermaphroditism
This malformation is consistent with the gonads and chromatin.
Male pseudohermaphroditism
can be divided into two categories. One type is male in appearance, with testes, sex chromosome XY, sex chromatin negative, and severe external genital deformity, which is more common in clinical practice. The other type is feminization of testes, secretion of estrogen, female like external genitalia, breast development, menstruation, but chromosome XY, chromatin negative, rare.
Female pseudohermaphroditism
The gonads, chromosomes and chromatin are all female, but affected by congenital adrenal hyperplasia of androgens, the external genitalia are deformed, the vaginal urethra opens at one place, the clitoris is enlarged, and the labia are united to form a scrotum.
True hermaphroditism
This type of malformation is complicated by inconsistent sex chromatin and gonads.
Patients have both testicular and ovarian tissues, which together are called oviducts. It may be a double oogonia or a single oogonia with the testis or ovary on the other side. True hermaphroditism is rare, but the presence of an oviduct should be highly suspected in cases of severe hypospadias with a cleft scrotum and cryptorchidism on one or both sides. The common sex chromosome haplotypes are XX or XX/XXY, XX/XY chimerism; XY or XY/XO chimerism.
Diagnosis
1. medical history may include a family history or a history of androgen use by the mother during pregnancy
2, physical examination mostly has mammary gland development, external genital malformations such as; hypospadias or ambiguous; bilateral cryptorchidism, the rest are male manifestations. True hermaphroditism, complete hypospadias, scrotum split in two halves, one side can be and oviduct, gender unknown.
3.Urethroscopic examination may have abnormal vaginal opening.
4.Sex chromatin examination Use cheek mucosal cell smear to observe chromatin, positive for female, negative for male.
5.Chromosome examination Take peripheral blood leukocytes and observe the chromosome histotype by tissue culture.
Treatment
The treatment of intersexual malformation is complicated, involving gonadal, psychological, social and other factors. Correction of the deformity is based on the patient’s wishes and the specific situation of the gonads. In terms of gender, we need to distinguish gonadal gender, chromosomal gender, psychological gender and social gender. It is necessary to take into account various factors, but ultimately the patient’s own wishes. Sometimes the parents decide the direction of treatment too early can bring the patient’s future dissatisfaction.
For male pseudohermaphroditism, it should be corrected as early as possible. For female pseudohermaphroditism, the thick clitoris can be cut off.
In true hermaphroditism, the diagnosis and treatment is more difficult and requires abdominal dissection. In females, the testicular part of the oviduct and the penis should be removed, and if necessary, the artificial vagina should be extended; in males, the ovarian part of the oviduct and the uterus and fallopian tubes should be removed.