Definition

Uterine agenesis is a congenital disorder where there is a malformation or absence of the uterus in a female baby. It occurs when the fetal reproductive system fails to develop into a uterus while in the womb. Other reproductive organs may develop but could be smaller than normal or not develop at all. In this condition, external reproductive organs like the genitals may appear normal.

There is a structure called the Müllerian ducts, which are the precursor to the formation of female reproductive organs. From this structure, other organs will develop such as:

• Uterus
• Fallopian tubes (tubes from the ovaries to the uterus)
• Cervix
• Ovaries
• Upper part of the vagina

If there is a developmental disturbance in the Müllerian ducts during pregnancy, the uterus may not form. Uterine agenesis is found in about 1 in 4500 females.

Because other organs also develop from the Müllerian ducts, disorders in Müllerian duct formation are also associated with other congenital abnormalities such as renal agenesis (kidney formation disorders or abnormal kidney positioning).

Causes

The exact causes of developmental and formation disorders of the uterus in babies are still unknown. It is suspected that mutations or changes in several genes involved in the development of reproductive organs before birth may occur. Additionally, environmental factors such as medications or diseases during pregnancy are suspected to have an influence.

There may be an interaction between genetic and environmental factors during pregnancy, resulting in the baby being born without a uterus. However, it still requires further research.

We also have articles related to vaginal formation disorders that you can read here: Vaginal Atresia - Definition, Cause And Risk Factors.

Risk Factor

The factors that increase the risk of uterine agenesis are still unknown. During pregnancy check-ups, doctors will examine whether there are risk factors that may complicate delivery. Inform the doctor if there is a history of congenital diseases in the family. Only take medications prescribed by the doctor, as some medications should not be taken during pregnancy and may cause side effects on the fetus.

Symptoms

Uterine formation disorders may not immediately cause symptoms in the baby, especially if the external appearance of the vagina or genitals looks normal. Generally, a female with uterine agenesis may only notice issues during adolescence when they do not experience menstruation despite having gone through puberty (primary amenorrhea).

Normally, during puberty, hormonal changes in females stimulate body changes. Puberty can be marked by breast growth, the appearance of pubic hair, and the development of breasts. However, because menstrual blood comes from the shedding of uterine tissue, menstruation cannot occur in patients with uterine agenesis.

Additionally, they may experience abdominal pain and issues related to sexual activity.

You can read further about the amenorrhea here: Primary Ammenorrhea - Definition, Cause And Risk Factor.

Diagnosis

The diagnosis of uterine agenesis can be determined by the doctor by gathering data regarding:

• The patient’s history of complaints and symptoms
• Family history of diseases and congenital disorders
• Menstrual history and the presence or absence of puberty signs
• Previous treatments
• The mother’s pregnancy and delivery history
• Findings from physical and additional examinations

Physical Examination

For females who come with complaints of not having menstruated, the doctor will conduct a physical examination of the entire body, especially the abdominal and genital areas. The doctor will also check for signs of puberty in the patient, such as breast enlargement and the appearance of pubic hair.

Diagnostic Examination

A gynecologist usually performs an ultrasound (USG) to help visualize the reproductive organs. From the ultrasound examination, female reproductive organs such as the uterus, fallopian tubes, and ovaries can be identified. With the use of ultrasound, the doctor may visualize the uterus's shape and determine whether it is present or not.

Hormone tests can also be conducted to help confirm the diagnosis and rule out other possible diagnoses. The hormones that can be tested are:

• FSH (Follicle Stimulating Hormone), which plays a role in sexual development and reproduction.
• LH (Luteinizing Hormone), which plays a role in ovulation and the production of hormones needed to support pregnancy.
• Androgens, a group of hormones that contribute to growth and reproduction.
• Estradiol, a form of estrogen hormone.

In uterine agenesis, hormone levels are usually within normal limits.

To confirm the results of the ultrasound, an MRI examination can be done to help diagnose uterine agenesis. Detailed images of the reproductive organs will be visualized, which can help see the presence of the uterus. Since congenital disorders can be associated with problems in other organs, MRI can help determine if the patient also has kidney disorders.

Management

The management of uterine agenesis varies depending on the patient's condition and symptoms. Research is still being conducted to provide clearer information on the disease process, treatment, and patient education. Patients will also receive education and counseling related to the organ abnormalities they have.

Treatments such as uterine transplants as fertility therapy or IVF (in vitro fertilization) are considered to help patients become mothers in the future. If uterine abnormalities are also accompanied by vaginal abnormalities, treatment with vaginal dilator devices can be done. This device is long and round and aims to stretch the vaginal canal to lengthen it. Additionally, reconstructive procedures to form the vagina can also be performed.

Complications

The complications of uterine agenesis include the inability to reproduce or infertility. The uterus is an essential organ that serves as the site for embryo implantation and the development of the fetus. If the uterus is absent, there is no place for the fetus to live and develop in the womb.

Moreover, in organ transplant procedures such as uterine transplants, immune system rejection reactions can occur. This reaction can arise due to the difference between the patient’s body tissues and the new uterine tissue introduced into the body.

You can read about the infertility problem here: Infertility - Definition, Cause and Risk Factors.

Prevention

There are no specific preventive measures that can completely prevent uterine agenesis. This is because the causes and risk factors of uterine agenesis are still unknown. Additionally, genetic factors suspected to play a role in uterine agenesis cannot be modified.

During pregnancy, regular prenatal check-ups are advisable. Consult with a doctor if you experience any complaints. Do not take medications without a prescription and monitoring from a doctor.

Adopt a healthy lifestyle during pregnancy, such as consuming nutritious and balanced foods, using pregnancy vitamins as recommended by the doctor, avoiding stress, drinking sufficient water, and not using certain chemicals or substances without knowing their safety.

When to See a Doctor?

If you or your child have not experienced menstruation despite showing signs of puberty, it is recommended to consult a gynecologist.

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