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Genital Anomalies


If the outer genital system diseases detailed examination and treatment is not made, that may affect the future psychological development and sexual life even his fertility


The differentiation of the outer genital system in the male direction is completely dependent to the testicles. The development of the testicles is regulated by an area responsible for its development present on the Y chromosome


Fetus has not had any sexual change until the 8th week of the embryological development and it includes both male genital canal (Wolf canal) and female genital canal (Muller canal). testosterone released from the testicle and with the effect of the ‘’hormone preventing the development of the Muller canal’’ all genital system differs in the male direction and as a result of the normal ending of these phases a boy whose genital system has been developed normally is born.


As there is not any testicle in the female fetus, hormone preventing the development of the Muller canal is not released and the development of the genital system is completed in the direction of female


When you discover even a minor change regarding the outer genital systems of your child you should firstly share this with your pediatrics. Following that phase, if it is seen required your pediatrics will ask for a more detailed examination and he will refer you to a urologic expert and child urologic for the treatment



This is the case when the child is not circumcised or too much circumcision skin is left and it shrinks and gets narrow. Actual Phimosis occurs rarely and the most important reason of it is the repeating infection caused by not paying attention to the local cleaning. Contrary to this, secondarily occurring Phimosis occur much more often. The penis head of the baby and circumcision skin are not separated at birth and that condition of adhesion continues until the 18th month. Trying of recession of this skin in this period causes damages in the connected tissue and the tissue that the body creates while healing this damage shrinks and gets narrows with the development of the baby. This condition is called as secondary Phimosis. When you see redness, swelling and fluid, when your child has pain while urinating and if he has fever, you should definitely see a doctor. Treatment is surgical circumcision


Para Phimosis

It is caused by the recession of the circumcision skin by the child or by his parents and letting it in this case by not returning it to the previous form. In this case, the child is very sick, his circumcision skin has edema and makes pressure to the penis head as a narrow circle, the volume of the penis increases and it gets red even purple. Treatment is done by returning it to its old shape by a urologic physician and applying the surgical circumcision without losing time.

Secret, Recessed Penis:

It may occur either by the covering and hiding of the penis by pre pubic oiled skin tissue or by the shortness of the lien tissue that hangs the penis to the body, wrong circumcision and traumas. For the selected cases, it may be treated by the weight losing and surgical intervention.

Penile Torsion:

Embryological anomaly generally depends on the skin and under skin tissue development defect. Penis is generally turned on the left side. Urethral meatus (outer urine hole) is side position and midline shows a gradient from down side to the upper side. it required surgical intervention.


Micro penis:

It is the case when the penis size in normal anatomic structure but lower than the standard of the age of the child. Endocrine diseases can be related to the genetic anomalies but sometimes their reasons cannot be found.

Macro penis:

Penis gets bigger quickly during the anomies increasing the testosterone reproduction at the children. Correct approach is the solution of the underlying endocrinology problem.


Penile curvature:

It is a kind of congenital anomaly observed in accordance with the asymmetry between two cavernous substances responsible from the penis erection. Penis has S shape of curve.

Pen scrotal Transposition:

It is an anomaly characterized by the development of the sacs over the penis and the penis over the sacs.

Scrotal hypoplasia:

Sac skin has been flattened strictly and insufficient. It may occur with undescended testicle or testicle absence.

Scrotal Ectopic:

It is result of the condition when the scrotal sac is seen somewhere apart from the place where it is supposed to be. It may be settled in the inner part of the leg, testicle par tor in other areas of the body.

Accessory scrotum:

It may be seen attached to the sac as an empty sac or anywhere between the sacs and groin.



It is the case when the urine hole is opened somewhere under the penis apart from the place where it is supposed to be or somewhere between the sac or sac and the groin. It may not only affect the future psychological and sexual life of the child but it may also affect his fertility depending on the severity of the case. It is required to do the treatment as early as possible and surgically. It is very important not to circumcise these children in any way because the circumcision skin is used in the surgery of these children as the most ideal reparation material in the nature.


It is the case when the urine hole is opened somewhere above the penis apart from the place where it is supposed to be. Usually this anomaly is accompanied by the skeleton and muscle system anomalies and development anomalies of the intestine front wall Wall and abdomen frontal Wall (extrophy vesicle). The treatment is the early surgery.

Bladder exstrophy:

Bladder frontal Wall has not been developed with the abdomen frontal Wall and bladder is in connection with the outer space above the abdomen.

Urethral anomalies:

We can define it as the development anomalies of the urinary way in the penis. It may be some anomalies such as the narrow urine discharge hole, extremely large, hanging toward out of the urine hole.


As stated above, genital systems of the boys should be checked and examined only by the parents but also by the pediatric. In case of detection any kind of problem or and when there is suspicious subject, the parents should apply to urology expert on their own or by the reference of a pediatrics.



  1. Clitoris
  2. Labium minor
  3. Labium major
  4. Vagina
  5. Cervix
  6. Body of the uterus
  7. Fundus of the uterus
  8. Urethra
  9. Anus
  10. Rectum
  11. Colon
  12. Urinary bladder

It is better to examine the genital organs as outer and inner ones are able to understand the anomalies at girls. Within this regard, outer genital organs of the girls include Hymen, clitoris, labium minus labium majors happen. The change in the outer organs starts in the 12th week in the mother’s womb. The inner organs include cervix, uterus (vagina), tuba, ovaries. The changes in these organs happen in the 3th and 10th weeks of the pregnancy. Vagina is a canal connecting the inner and outer genital organs.



Not having outer genital organs:

Outer genital organs have not been developed at all in the mother’s womb. İt is usually accompanied by the inner genital organ anomalies.


Hymen imperforates:

It is the most common one of the genital anomalies runs with the blockage of which the types we will see in the next chapters. There is not the space in the middle of the hymen where it is supposed to be. Diagnosis can be done with the mucous accumulation in the vagina during the neonatal period or more commonly it shows symptoms with the start of the menstruation (periodic bleeding). As the blood is not discharged outer space, it fills the inner side of the uterus and causes inguinal pains. There may also be urinary way of complications such as painful urine, often urination and side pain not having period in spite of starting of the swelling of breast and in case of presence of abdominal pains as cramps must also be considered and the patient must be transferred to a pediatrics center.


Labium hypertrophy:

It is characterized by the growing in the labium minus at birth. It does not cause any complaint but surgery may be applied for cosmetic reasons.


Clitoris anomalies:

It does occur rarely. Double clitoris development may be seen in the inner genital organs and in the bladder for some cases of anomalies. Some sexual anomalies accompany the hypertrophy in the clitoris and this will be explained in the next chapters.



The development of the lower part of the vagina happens with urinary tract and the upper part development happens with the uterus, cervix and tubes. These development relations usually accompany with the vaginal anomalies and birth anomalies of the kidneys and urinary tracts.


Vaginal atresia:

Canal shaped structure of the vagina has not been developed. It may be in all along the vagina but also upper part close to the uterus or lower part it opens to outer space. Uterus and cervix are normal. It does not cause any complication before the puberty but with the starting of the menstruation un canalized and blocked blood gets accumulated in the upper vagina and uterus and causes pain and mass symptoms just like in the hymen imperforates.


Vaginal agenesis (not having vagina at all):

In this rare anomaly, the uterus can be normal or does not exist at all. These kids having totally normal genital organs do not Show any symptoms until the puberty periods it must be considered for the girls having amenorrhea means not having period at all or secondary sexual characters such as breast development or hairs in the genital area and they must be referred to the pediatric center for the corrective surgical interventions. Kidney and skeleton system disorders may accompany these diseases.


Double vagina:

Uterus cervixes are two. If there is one uterus, the case is not having but two uterus as the vagina might have been divided in two from the middle.



Double uterus:

There are two half uterus, two half cervix and even sometimes two vaginas. Sometimes there is one uterus but as the connection of the canals forming the uterus in the embryonic life is not totally complete, there may be malformation called uterus bicornis, uterus septus. Most of them do not Show any symptoms at all and sometimes they may Show symptoms with apse formation and signs such as infections


Half uterus:

One of the canals forming the uterus has not been developed at all. It is rare. Above mentioned uterus anomalies do not Show any symptoms unless pregnancy. During the pregnancy, structurally normal uterus does not Show sometimes the required development and it may cause some complications such as miscarriage, ectopic pregnancy, growth deficiency of the baby or premature births.


Birth anomalies of the ovary:

During the routine ultra sound examination made during the pregnancy, cystic substances may be detected in the ovary of the baby. These are general thin walled simple cysts and they regress and disappear on their own within two years but especially for the ones bigger than 5 cm, the cyst the and directly the ovary from which the ovary turn around themselves and they may cause gangrene so they must be observed closely in a pediatric surgery center with ultra sound controls.


Other anomaly that may be seen in the ovaries is the agenesis of that part (not developed at all) digenesis called wrong development and other hormonal disorders related to these conditions. These development disorders connected to the ovaries may be accompanied by the chromosome diseases.



The genetic diseases, hormonal disorders or embryological disorders that occur during the development in the mother’s womb may be seen as sexual development anomalies.


Even it is rare, there may be genital organs belonging to both sexes in a one human body which is called hermaphroditism (double sexes). The simplest definition for these patients can be done as inability of defining if a baby is girl or a boy at the birth.


Female pseudo hermaphroditism:

It is the most commonly seen development disorder. The chromosome types of these is patients are like the one of a normal female but they do not develop like a normal female even if they have normal ovaries. Hair as we name virilisation or deep voice is some of the male particularities. At these patients, while trying to solve the problem of the cortisol release from the kidney tissue, too much androgen means male hormone occurs. With the effect of this residual androgynous effect, even if the inner genital organs are like a girl outer genital organs Show some specialties such virilisation or hypertrophy in the clitoris means growing.


Vagina has not opened completely to the outer space and labium is seen as thickened. There is enzyme deficiency causing extreme salt loss in some cases. Missing cortisone is put in its place for the treatment. The anatomic disorders in the outer genital organs can be fixed with surgery.

Actual hermaphroditism:

Both testicle and ovaries like structures are present. Most of them has female type of chromosome but for this and similar sexual development , the sex of the child is determined by a special committee including genetics, pediatric endocrinology, child pediatric and pediatric specialist by taking the growing type of the child until that time and the choice of the parents into the consideration.


Apart from these, there are many other sex determining inner genital organ disease accompanied by the rare but various chromosome diseases.