Congenital malformations of the testis include abnormal development of the testis itself and abnormal testicular position. Testes with positional abnormalities are often accompanied by testicular developmental disorders. The most common congenital anomalies of the testis that result are: anencephaly, 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, affecting the sexual function and reproductive ability of the patient.
Etiology and pathology
1.Congenital abnormalities of testes
(1) Abnormal number
This malformation is the result of abnormal division of the intra-genital epithelial cell population. It is not common clinically, usually three.
Monotestis Only one testicle is present, and intra-abdominal cryptorchidism should be noted.
Absence of testes, loss of fertility and sexual ability.
(2) Abnormal position
Cryptorchid The testicle is not in the scrotum on one side or both sides, more common.
Ectopic testis The testicle encounters resistance on its way to descend and cannot enter the scrotum after exiting the subcutaneous ring, and slides towards the nearby tissues. It may enter in front of the tendon membrane of the external oblique abdominal muscle, the root of the penis, the perineum, etc.
(3) Non-connection of testis and epididymis
This condition is often complicated with undescended testes, presenting as an orchidless malformation. Only the epididymis or vas deferens is present in the scrotum.
2. Testicular hypoplasia
The incidence is about l/200-1/500 in men and accounts for a high proportion of male gonadal dysplasia and infertility. The main features are small testes, fibrous and glassy changes of the varicocele, infantile reproductive 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 (<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 technology is not yet mature.
Intersexual malformations
Although the incidence of intersexual malformation is not high, it is necessary to understand it because it not only produces sexual and reproductive dysfunction, but also is 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
1.Pseudohermaphroditism
This malformation gonads and chromatin consistent.
(1) Male pseudohermaphroditism
Can be divided into two categories. One type is male in appearance, with testes, sex chromosome XY, sex chromatin negative, with serious external genital deformities, more common clinically. The other category is feminization of testes, secretion of estrogen, external genitalia like female, breast development, menstruation, but chromosome XY, chromatin negative, clinical rare.
(2) Female pseudohermaphroditism
The gonads, chromosomes, chromatin, etc. are all female, but affected by congenital adrenal hyperplasia androgen, external genital deformity, vaginal urethral opening, clitoris is thick, labia united into a scrotum shape.
2.True hermaphroditism
This kind of malformation sex chromatin and gonads are not consistent, complex and difficult to identify.
The patient has both testicular and ovarian tissues, which together are called ovotestis. It can be a double omo-testis; it can also be a single omo-testis, 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 during maternal pregnancy.
(2) Physical examination mostly has mammary gland development, external genital anomalies such as; hypospadias or ambiguous; bilateral cryptorchidism, the rest are male manifestations. True hermaphroditism, complete hypospadias, scrotum split in two halves, one side can reach the oviduct, gender unknown.
(3) Urethroscopic examination may have abnormal vaginal opening.
(4) Sex chromatin examination A smear of mucosal cells of the cheek is used to observe chromatin, positive is female, negative is male.
(5) Chromosome examination Peripheral blood leukocytes are taken and the karyotype can be observed 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.
True hermaphroditism is more difficult to diagnose and treat and requires abdominal dissection. In the case of female, the testicular part of the oviduct and the penis should be removed and the artificial vagina should be extended if necessary; in the case of male, the ovarian part of the oviduct, the uterus and the fallopian tubes should be removed.