Developmental Disorders of the Female Genital Tract

Introduction

The female genital tract contains organs that help in the sexual and reproductive functions of the body. The female genital tract consists of the vagina, vulva, clitoris, ovaries, hymen, and several glands. The organs in the female genital tract are designed to perform their specific functions. For example, the vagina links the uterus and the outside world. It plays a crucial role in pregnancy and allows the menstrual blood to leave the body. The main function of the vulva is to protect the internal organs of the female genital tract. The clitoris plays a crucial role in sexual stimulation. Ovaries are the principal organs of the female genital tract and produce mature eggs (ovum). The hymen is a thin layer of tissue present at the vaginal entrance. Several glands in the female genital tract produce the hormones required for sexual development in females. As the name suggests, developmental disorders include those conditions that affect the baby girl's growth in the womb. These disorders interfere with the normal reproductive functions of a woman.

What Are the Causes of Developmental Disorders in the Female Genital Tract?

As the baby undergoes development, the reproductive organs start forming between the fourth and fifth week of pregnancy. The organs continue to develop till the 20 th week of pregnancy. Growth is a complicated procedure; the problem arises when certain things interfere with it. The causes of developmental disorders in the female genital tract are listed below:

1. Genetic Defects - The genes are the basic units of heredity, and they contain information about the body's growth, development, and other metabolic reactions. Some babies are born with genetic defects. As a result, their body is unable to produce the enzyme 21-hydroxylase. The adrenal glands use this enzyme to produce cortisol and aldosterone. In the absence of this enzyme, the baby girl will be born with a uterus, fallopian tubes, and ovaries, but her genitals resemble those found in boys.

2. Drugs - The doctor might recommend certain medications during pregnancy. When these medications pass on to the baby through the bloodstream, the problem arises. These drugs interfere with the normal growth and development of the baby. One such medication is Diethylstilbestrol. Doctors usually recommend this drug to prevent early labor and reduce the chances of miscarriage. However, scientists found that the girls born to the mothers who took this medication had an abnormal uterus. Also, this drug increases the risk of vaginal cancer.

3. Problems in the Other Organs - The reproductive tract is located close to the urinary tract. If any problem occurs in the urinary tract, the reproductive organs might be affected, and the baby is born with underdeveloped genitals.

What Are the Developmental Disorders of the Female Genital Tract?

Sometimes, the disorders are not visible on the ultrasound, but they become visible after the baby is born. In some cases, the condition is life-threatening, while others appear late in life. Some of the major developmental disorders of the female genital tract include the following

• Intersex: Intersex is a term used to describe the condition in which a person is born with both male and female sex characteristics. The different types of intersex are listed below:

  • 46 XX Intersex - In this condition, the person has the chromosomes and ovaries of a woman, but the external organs resemble those of men. During her development, the baby girl might have been exposed to a large number of male hormones. As a result, her external reproductive organs (genitals) appear like males.

  • 46 XY Intersex - Though the person has the chromosomes of a male, his external genitals are incompletely developed or look like males. This condition mainly arises due to an imbalance in the male and female hormones. Testicles are either underdeveloped or missing from their position.

  • True Gonadal Intersex - The person might have one ovary, one testis, or both. He can have XX chromosomes, XY chromosomes, or both. The cause of true gonadal intersex is still unknown.

• Ambiguous Genitalia: Ambiguous genitalia is a condition in which the external genitals have not developed. It becomes difficult to recognize whether the baby is a boy or a girl. During pregnancy, a process occurs in the body of a female that determines the sex of the baby. If this process fails due to some medical condition or other causes, the baby develops ambiguous genitals.

• Cloacal Problems: During the initial stages of development, the urinary tract, vagina, and rectum drain into a tube known as the cloaca. As time passes, these three organs separate and have their openings. The problem arises when the cloaca persists, and all the openings are not separate. The baby might be born with only one opening, making it difficult for him to pass urine and feces.

• Defective External Genitals: The reproductive organs present outside the body might be swollen or fused. The labia and clitoris are the external genitals. Fusion of these organs might be the cause of intersex or ambiguous genitals.

• Ovarian Problems: Ovaries are the crucial organs of the female reproductive system. They form the ovum (mature egg) and play a vital role in the reproduction of females. Sometimes, the baby is born with an extra ovary, extra tissue attached to the ovary, or ovotestes.

• Hymen Problems: The hymen is a bunch of tissue present at the vaginal opening. Sometimes, the hymen blocks the vaginal opening (imperforate hymen) or is too small to allow menstrual blood flow. Hymen problems usually go unnoticed until the girl reaches puberty.

• Problems of the Uterus and Cervix: A baby girl might be born with an extra uterus, extra cervix, or blocked uterus. Sometimes, the uterus and the kidneys are missing, or one-half of a vagina or uterus is present. These problems cause swelling, pain, and infertility.

• Vaginal Problems: The vagina might be missing by birth, or the girl may be born with a vagina that is blocked by a tissue layer. Sometimes, an extra vagina is present in the reproductive tract. Vaginal problems affect the reproductive functions of a female.

What Are the Symptoms of Developmental Disorders of the Female Genital Tract?

Different signs and symptoms are seen in different conditions of the female genital tract. However, the most commonly visible signs and symptoms are listed below:

1. The breasts fail to grow.

2. Difficulty in emptying the bladder.

3. Pain at the time of intercourse.

4. Menstrual bleeding might occur even after using a tampon. It indicates that an extra vagina is present in the body.

5. Swelling in the pelvis due to a blood clot or mucus that blocks the ureters.

6. The patient experiences cramps every month, even in the absence of menstruation.

7. Amenorrhea (absence of menstruation).

8. Preterm birth.

9. Risk of repeated miscarriages.

What Methods Are Used to Diagnose the Problems of the Female Genital Tract?

Medical history, physical examination, and certain tests help diagnose the problems of the female genital tract. The diagnostic methods are listed below:

• Medical History - The medical history is verbal communication between the doctor and the patient to know about the signs and symptoms of the condition, the family history, the drug history, and the treatments done in the past. For example, babies born to mothers who had taken Diethylstilbestrol during pregnancy are at a higher risk of experiencing the problems.

• Physical Examination - The doctor examines the patient to check the physical signs of the disorders. If the baby girl is born with a defect in the genital tract, the following signs are noted:

  • The bladder might be outside the body.

  • Abnormal cervix and vagina.

  • Fused labia.

  • Ambiguous genitals.

  • Single opening outside the body.

  • Swelling of the clitoris.

• Laboratory Tests - The following laboratory tests are usually recommended -

  • Blood Tests: The doctor recommends the patient undergo a blood test to check for anemia and bleeding disorders. It also helps to check the levels of electrolytes present in the body.

  • Urinalysis: In this procedure, the patient collects the urine in a container or a sterile bag. The urine sample is then examined under a microscope. This test helps to check the electrolytes present in the urine.

  • Genetic Testing: The doctor injects a needle into the body to obtain a genetic sample of the mother to check the defective genes.

• Imaging Tests - The following imaging tests are usually recommended -

  • Ultrasound: It is an imaging test used to diagnose the problems of the reproductive tract. The advantage of the procedure is that the patient is not exposed to the X-rays so it can be easily carried out in pregnant females. The doctor moves a device known as a transducer over the abdomen of the patient. Sound waves reach the body through the device, and images are obtained on the computer screen.

  • Magnetic Resonance Imaging (MRI) Technique: As the name suggests, this method uses magnetic fields and radio waves to give an image of the organs present internally and to see the problems of the genital tract.

  • Abdominal Endoscopy: In this procedure, an endoscope is inserted through the mouth into the abdomen to examine and treat the problems present in the digestive tract.

How to Manage the Developmental Disorders of the Female Genital Tract?

The patient might not require any treatment in the initial stages. However, the following might be recommended at later stages:

1. The doctor might recommend a dilator if the baby is born without a vagina. It is a device that helps expand the area to create a space for the vagina. This procedure takes about four to six months.

2. When the baby girl grows and reaches adulthood, surgery might be done to create a new vagina.

3. Multiple surgeries are done to correct the cloacal problems.

4. If the baby girl is born with the condition that can cause fatal complications in the future, surgery is done immediately after birth.

Conclusion:

During pregnancy, several factors affect the growth and development of the baby. The organs of the genital tract start forming between the fourth and fifth weeks of pregnancy. When these organs fail to develop due to genetic defects, drugs, or urinary tract disorders, the problem arises. Ultrasound, genetic testing, and endoscopy help diagnose the problems before the baby is born. So, pregnant females need not worry and consult the doctor at the earliest to know about the treatments for developmental disorders.