Yes, it is possible for females to be born without ovaries. This rare condition is called ovarian agenesis or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Females with MRKH are born without ovaries and a uterus, but they have normal external genitalia and functional vaginas.
The cause of MRKH syndrome is not fully understood, but it likely results from abnormal development of the Müllerian ducts during fetal growth. The Müllerian ducts are embryonic structures that eventually develop into the uterus, fallopian tubes, cervix, and upper part of the vagina. When the Müllerian ducts fail to develop properly, these reproductive organs don’t form as expected.
MRKH affects approximately 1 in 4,500 female births. It is usually not diagnosed until puberty, when menstrual periods fail to start. Some of the symptoms and signs of MRKH include:
- No menstrual periods by age 16
- Normal breast development at puberty
- Normal external genitalia
- Lack of a uterus and fallopian tubes
- Vaginal length less than 3 inches
Many females with MRKH syndrome have normal sexual development and identify as female throughout their lives. They often first learn about their condition when trying to understand why their menstrual cycles have not started by adolescence.
Causes
The exact causes of MRKH syndrome are unknown, but it likely results from disruptions in embryonic development early in gestation:
- Impaired development of the Müllerian ducts – Between 6-12 weeks gestation, the Müllerian ducts form and give rise to the uterus, fallopian tubes, cervix, and upper vagina. In females with MRKH, the Müllerian ducts fail to develop appropriately.
- Genetic factors – No single gene mutation has been identified, but there are likely genetic influences that disrupt normal development. Having a first-degree relative with MRKH increases risk.
- Environmental factors – Exposure to certain toxins or medications during gestation may potentially interfere with development.
MRKH is not caused by anything the mother did or did not do during pregnancy. It arises spontaneously due to abnormal embryonic development. The exact disruption varies case by case, but the end result is ovaries and a uterus do not form as expected.
Diagnosis
MRKH may be suspected if menstrual periods do not start by age 16. Diagnostic tests for MRKH include:
- Physical exam – External genitalia appear normal, but the vaginal canal is shorter than average.
- Pelvic ultrasound – Imaging shows absence of a uterus and ovaries.
- MRI – Provides detailed images confirming lack of internal reproductive organs.
- Chromosome analysis – Normal 46,XX female karyotype.
These tests can definitively diagnose MRKH syndrome. The condition must be differentiated from other disorders causing delayed puberty or absent periods.
Once diagnosed, providers should check for any associated anomalies involving the urinary tract or spine. Kidney defects occur in around 30% of MRKH cases. Follow-up screening helps guide any needed treatment.
Treatment
While MRKH itself has no cure, treatment focuses on managing symptoms and assisting with reproduction:
- Hormone therapy – Estrogen and progesterone supplements can induce breast development and simulate a menstrual cycle.
- Vaginal dilation – Using dilators can lengthen and widen the vaginal canal for comfortable intercourse.
- Surgery – Reconstructive procedures can create a new vaginal canal in some cases.
- Assisted reproduction – Using a gestational carrier allows those with MRKH to have a biological child.
- Counseling – Psychotherapy helps patients cope with the diagnosis and grief over infertility.
Many treatment options exist, so patients with MRKH can develop fully as females and build families through advanced reproductive techniques. Multidisciplinary care optimizes outcomes.
Prognosis
When managed appropriately, the prognosis for females with MRKH is good. They can expect to progress through puberty normally and gain comfort with their sexual function as adults.
While unable to carry a pregnancy, MRKH patients have several options to become parents. Reproductive technology now offers hope for achieving biological motherhood using donor eggs and a gestational surrogate.
With counseling support, females born without ovaries can adjust well to this diagnosis psychologically and go on to lead healthy and productive lives.
Key Takeaways
- MRKH syndrome causes females to be born without ovaries or a uterus due to disrupted development of the Müllerian ducts in the embryo.
- Signs include lack of menstrual periods and short vaginal length despite normal breasts and external genitalia.
- MRKH is diagnosed via pelvic imaging and lab tests showing an absent uterus and ovaries.
- Treatment focuses on hormone therapy, vaginal dilation, reconstructive surgery, and assisted reproduction via gestational carrier.
- With counseling and medical support, MRKH patients have a good long-term prognosis.
Frequently Asked Questions
Can females be born without ovaries?
Yes, females can be born without ovaries. This is called ovarian agenesis or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. It is a rare disorder affecting about 1 in 4,500 female infants. MRKH occurs when the Müllerian ducts fail to properly develop in the embryo, leading to an absent uterus and ovaries with otherwise normal external genitalia.
What causes females to be born without ovaries?
The exact causes of MRKH syndrome are unknown, but it results from disrupted embryonic development early in gestation. The Müllerian ducts give rise to the female reproductive system between 6-12 weeks, but do not form correctly in those with MRKH. Genetic and environmental factors likely contribute to this developmental disruption.
How is MRKH diagnosed?
MRKH may be suspected when menstrual periods are absent by age 16 despite normal breast development. Diagnostic tests include pelvic ultrasound, MRI, and lab tests confirming lack of internal reproductive organs. MRKH is definitively diagnosed based on imaging and clinical findings.
Can females with MRKH become pregnant?
No, females with MRKH cannot become pregnant or carry a child since they lack a uterus. However, they can still become biological mothers through use of IVF with a gestational carrier. Their eggs can be harvested and fertilized, then transferred to a surrogate who can carry the pregnancy.
What is the treatment for being born without ovaries?
There is no treatment that can restore ovaries or induce ovulation in MRKH patients. But symptomatic relief is possible through hormone therapy, vaginal dilation, surgery, and counseling. With reproductive assistance, those with MRKH can still build families. Prognosis is good with proper medical and psychological support.
Conclusion
In summary, Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder causing females to be born without ovaries or a uterus. It results from abnormal development of the Müllerian ducts during embryonic growth. MRKH often goes undiagnosed until puberty when menstrual periods fail to start. While unable to get pregnant, patients have several options to become mothers with assisted reproduction. With comprehensive treatment, females born without ovaries can adjust well physically and psychologically.