Etiology Male genital malformation is a congenital disease, which is mostly caused by abnormal gene expression caused by various factors.
Symptoms include testicular malformation.
The quantity is not normal. Anorchidism is rare, which may be due to the incomplete differentiation of testis during embryonic development, so testicular atrophy degenerates. However, because there are still some interstitial cells, patients may have male genitalia and appearance. Attention should be paid to the differentiation from bilateral cryptorchidism. The disease is characterized by the increase of luteinizing hormone in blood, but the plasma testosterone level does not increase after the administration of chorionic gonadotropin, and most of them are accompanied by absence of vas deferens and epididymis. Most single testicles do not need special treatment. The purpose of surgical examination is to find out the possible cryptorchidism in abdominal cavity and prevent canceration. Multiple testicles refer to three or more abnormal testicles.
Abnormal size. Testicles are smaller than normal because of hypoplasia, and most of them are non-isolated symptoms; Testicular enlargement due to hyperplasia, such as testicular teratoma; Congenital atrophy.
Abnormal position. Testicular fusion refers to the fusion of bilateral testes in abdominal cavity or scrotum, which is easily misdiagnosed as cryptorchidism or monogamy with renal malformation. Cryptorchidism refers to the abnormal state that bilateral or unilateral testicles do not descend into the scrotum after 2 months of birth. Ectopic testis means that the testis deviates from the normal route during the development decline, does not enter the scrotum, and is located in the pubic bone, penis, thigh, perineum, groin and other parts. Abnormal attachment of testis and epididymis can lead to sperm infertility by producing obstacles, and it is easy to cause testicular torsion and even tissue necrosis due to insufficient blood supply.
Abnormal vas deferens
It can be divided into congenital absence, ureteric communication and repeated vas deferens.
If there are no other malformations, just a simple absence of vas deferens, the patient's sexual desire and sexual function are normal, and the only symptom is infertility. The clinical manifestation is azoospermia, but the serum hormone level is normal. Testicular biopsy can confirm that, if possible, the vas deferens stump can be anastomosed with epididymis through surgical treatment.
Abnormal penis
The complete absence of penis is often accompanied by urethral malformation, which is quite difficult to treat. In the past, penile plasty was not effective. It is best to remove testicles for urethroplasty and use estrogen to maintain female sexual characteristics after puberty.
Latent penis is covered with fat in perineum, scrotum and pubic bone due to its short development time. The penis is exposed only when the fat is reduced during development, and it can also be "liberated" and returned to normal through plastic surgery.
Congenital penis torsion changes the direction of urethral orifice, and a few people may have symptoms such as dull pain when erect. This disease is also prone to erectile dysfunction.
The two penises can be arranged in parallel or in front and back.
If the penis is too big or too small, it can be shortened by plastic surgery. If the penis is too small and the cause is complicated, it needs to be properly handled.
The phimosis can account for more than 25% of boys, but the adult phimosis is obviously less than that of teenagers. It can be divided into physiological phimosis, pseudophimosis (too long prepuce), true phimosis and incarcerated phimosis.
The latter is more common than the former and will affect erectile function.
Congenital prostatic seminal vesicle malformation
Prostate hypoplasia often coexists with other sexual organ hypoplasia, and prostate cyst may be complicated with dysuria.
Infertility due to seminal vesicle deficiency can be preliminarily judged by extremely low seminal plasma sugar level and low seminal fluid volume, and can be diagnosed according to seminal vesicle radiography.
Examination In the work of male infertility clinic or urology clinic, doctors can often see a small number of patients with various congenital malformations that can lead to male infertility. Although some of these congenital malformations are difficult to correct, some patients can be surgically corrected as early as childhood if they can be found in time.
However, due to the lack of this knowledge and the particularity of reproductive system, people are ashamed to mention or dare not go to the hospital for examination, which leads to some patients missing the opportunity for treatment.
At present, premarital examination is not common in China. If not carefully examined, it will also affect the stability of marriage and family. Therefore, parents are advised not to neglect the careful observation of boys' growth and development. Once the problem is found, take the child to the hospital for examination as soon as possible.
Treatment of congenital penile malformation
Congenital penile malformation is caused by hypoplasia of genital nodules. In addition to penile absence, such patients may also be complicated with other malformations of urogenital system, rectum, anorectal cardiovascular system and lower limbs. For patients who can survive, the best treatment is to turn to women, and their operations include orchiectomy and vulvoplasty.
Concealed penile malformation
Concealed penile malformation is more common in obese people (except for scrotum enlargement). Because of obesity, phimosis and short penis development, patients often suffer from abnormal penis development. In addition to affecting urination, it also has a greater impact on sexual life. Its treatment method is comprehensive weight loss therapy, and penis plasty can be carried out with endocrine therapy when necessary. Children patients should try to complete the operation before puberty.
Bipelvic malformation
Bipenile malformation is caused by the development disorder of penis primordia in embryonic period, which is often complicated with other malformations, such as bimpenile malformation and anorectal malformation. The treatment of simple double penis deformity is relatively simple, and one side can be preserved and the other side can be removed.
Small penis deformity
Patients with penile deformities suffer from secondary sexual development, erectile dysfunction, and even dysuria in severe cases. The treatment of such patients can be carried out according to the following principles: firstly, relieve the patient's dysuria and implement urethroplasty as soon as possible; In endocrine therapy, the earlier you start using androgen, the better the therapeutic effect may be; If necessary, small penis breast augmentation or transsexual surgery can be performed.
Giant penile malformation
The penis length and diameter of patients with macropenia are larger than normal. Patients with splenomegaly often have other endocrine system diseases. Such patients are usually treated by partial resection of corpus cavernosum.
Webbed penis deformity
The webbed penis is a kind of deformity in which the penis skin is always attached to the scrotum, making it impossible for the penis to erect and affecting urination. Some patients also have hypospadias or gender malformation. According to the specific situation, penile plasty or hypospadias repair can be selected for treatment.
Penile bending deformity
The main symptom of this disease is penile curvature. Accompanied by urination and sexual dysfunction. The main treatment is penile plastic surgery, including removing the tissue that affects penile straightening.
The phimosis and foreskin are too long.
Phimosis and redundant prepuce are common congenital malformations of male genitalia. Although both malformed foreskins cover the penis, phimosis can't turn the glans.
Hypospadias and hypospadias
Hypospadias is a rare congenital malformation, and its etiology is not very clear. It can be divided into three types, namely penis head type and complete type (which may be accompanied by bladder eversion). Such patients should also receive surgical correction before school age to prevent premature death due to complications.
Congenital malformation of scrotum
Congenital malformation of scrotum is rare. The treatment is to choose different plastic surgery according to the situation.
Congenital testicular malformation
The common testicular malformation is cryptorchidism. The main treatment methods are hormone therapy and surgical treatment.
Female Genital Malformation Congenital malformation of female genitalia (abnormal development and dysfunction of female reproductive tract) includes congenital malformation and dysfunction of uterus, cervix, vagina and fallopian tube, often accompanied by urinary and skeletal malformation, which has different degrees of influence on patients' reproductive ability, mainly manifested as amenorrhea, infertility, repeated abortion and premature delivery. Among them, uterine malformation is more common.
Abnormal common types caused by obstruction of normal catheter formation include vaginal septum, vaginal septum, vaginal atresia and cervical atresia.
Abnormalities caused by hypoplasia of accessory mesonephric duct derivatives: including absence of uterus, absence of vagina, uterine dysplasia, unicornuate uterus, primitive uterus, tubal dysplasia and so on.
Abnormalities caused by the fusion disorder of accessory mesonephric duct derivatives: including double uterus, double horn uterus, saddle uterus and septate uterus.
In order to enable clinicians to classify all kinds of malformations more accurately, and to count the correlation between the degree and types of malformations and abortion and obstetric complications, the classification system of female reproductive tract dysplasia proposed by American Society of Reproductive Medicine (ASRM) 1988 is widely used at present, which focuses on describing the types of uterine dysplasia from the perspective of fusion defect of bilateral accessory mesonephros and the appearance of uterine malformation, rather than based on pathophysiology.
Symptoms include abnormal vaginal development.
Vaginal atresia: The abnormal development of urogenital sinus and vaginal bulb leads to partial vaginal atresia. Atresia is located in the lower vagina, about 2 ~ 3 cm long, and it is still a normal vagina. Because the lower part of vagina is atresia and menstrual blood drainage is also blocked, its symptoms are the same as hymen atresia.
Congenital absence of vagina (congenital absence of vagina) If the bilateral accessory kidneys meet, their ends do not extend to the ends, resulting in congenital absence of vagina, often accompanied by absence of uterus or uterus without trace. Only a few patients have normal uterus and normal ovaries, and these patients often suffer from urinary system malformation. Also known as Meyer-Rokitansky-kuster-Hauser syndrome (MRKH syndrome).
If the junction of bilateral middle kidney and urogenital sinus is not penetrated, or different parts of vaginal plate are not completely penetrated when cavitation occurs, a transverse vaginal septum can be formed in vagina. The diaphragm can be located at any level of the vagina, usually in the middle or upper part of 1/3. Thick about 1cm, or very thin. A perforated diaphragm is an incomplete diaphragm. Diaphragmatic insufficiency is common, and complete diaphragm is rare.
Vaginal mediastinum Vaginal mediastinum is caused by the absence or incomplete disappearance of mediastinum when bilateral accessory kidneys are fused. It can be divided into complete or incomplete vaginal mediastinum. This deformity is usually associated with various types of uterine and cervical malformations. There can be double cervix and uterus, single cervix and uterus or normal cervix and uterus.
The end of vaginal mediastinum deviates from the midline, inclines to one side and merges with the vaginal side wall to form a double vagina, and one side communicates with the outside world. The other side is the blind end of the vaginal cavity. Often associated with double uterus. One side of the uterus has smooth menstrual blood drainage. On the other hand, menstrual blood accumulates in the vaginal blind cavity. Because most oblique septa have holes, menstrual blood can still be discharged slowly. If there is no hole in the oblique septum, menstrual blood cannot be discharged and accumulated in the blind end of the vagina or uterus on the same side. Most oblique vaginal septa are accompanied by ipsilateral renal absence.
Abnormal uterine development
The accessory middle kidney of congenital endometriosis is completely undeveloped, so the fallopian tube, uterine body, cervix and vagina are missing at the same time. The accessory middle renal duct is not fully developed, and there may be no uterine body, but there are cervix and vagina; Cervical deficiency usually coexists with uterine and vaginal deficiency.
Primordial uterus and baby uterus, also known as trace uterus, are usually related to absence of vagina, because the accessory mesonephros on both sides stop developing soon after meeting. The uterus is small and has no uterine cavity. The baby's uterus is due to the fact that the development of the accessory kidney stops in a short time after meeting, and the uterus is smaller than normal and extremely bent forward or backward. The cervix is conical and relatively long, and the ratio of uterine body to cervix is 1: 1 or 2: 3.
Monohorn uterus and residual horn uterus Monohorn uterus is developed from unilateral accessory mesonephros, the contralateral accessory mesonephros is undeveloped or undeveloped, and the undeveloped ovary, fallopian tube and kidney are absent at the same time. If one accessory mesonephros develops well and the other accessory mesonephros stagnates during its development, it will form different degrees of residual horn uterus, most of which are only connected with the opposite unicornuate uterus through fiber bundles.
Arched uterus (uterus) and double-horned uterus (double-horned uterus) have slightly concave bottoms, but the uterus and cervix are normal, which is also called saddle uterus. The concave bottom of the biconical uterus is obvious, resulting in a corner protrusion on both sides of the uterus, and the formed short protrusion extends into the lower part of the uterine cavity to reach the internal cervix, and the cervix is normal.
The uterine septum and the uterine septum are due to incomplete fusion of the accessory mesonephros on both sides, which develop into two uterus and two cervix respectively, and there is a fallopian tube and an ovary on the left and right uterus. May be accompanied by vaginal mediastinum or oblique septum. Diaphragm uterus forms a diaphragm in the uterine cavity due to incomplete fusion of the accessory middle renal ducts on both sides. The uterine cavity is completely divided into two parts from the bottom of the uterus to the cervix, which is a complete septum and only a part is an incomplete septum. The appearance of the uterus is normal, and there is a diaphragm in the cavity, which divides the uterine body into two cavities.
Atypical cervical hyperplasia
Congenital cervical hypoplasia (agenisofoccular), that is, there is no cervix, and the cervix does not exist at all.
Congenital cervical dysplasia (cervical atresia) has cervical tissue, but it is solid. Both of them can have normal vagina or congenital absence of vagina, and often have normal uterine body and endometrium.
Tubal dysplasia
Unilateral fallopian tube loss: due to underdeveloped accessory middle kidney.
Bilateral fallopian tube loss: common in patients with no uterus or primitive uterus.
Unilateral (occasionally bilateral) accessory fallopian tube: it is a branch of fallopian tube with umbrella structure, and the lumen is connected or not.
Fallopian tube hypoplasia, occlusion or mid-section loss: similar to tubal ligation.
Genital dysplasia
Some patients with abnormal reproductive tract development can have normal menstruation and sexual life, and there is no abnormality in pregnancy and delivery, which is often discovered by accident or never discovered during physical examination.
However, most patients can show abnormal reproductive function, such as infertility, repeated abortion, premature delivery, fetal growth restriction, abnormal fetal position and abnormal delivery period. Different types of deformities have different effects. Among them, uterine malformation is more common and has a serious impact on fertility.
Abnormal delivery period
Due to abnormal myometrial dysplasia, abnormal labor process during delivery and difficulty in cervical dilatation, it may lead to dystocia and even uterine rupture. Obstructive dystocia may occur during delivery if the non-pregnant uterus is located in the utero-rectal fossa. The incidence of placenta adhesion, placenta implantation, placenta retention, postpartum hemorrhage or puerperal infection also increased significantly, and the rate of cesarean section increased significantly.
The causes and symptoms of treating female genital congenital malformation are different, and patients should go to specialized hospitals for examination and treatment in time.