What Is Anorchia?
Anorchia is defined as an absence of testicular tissues. It is a disorder in which a person with XY karyotype (sex-determining system), which usually corresponds to males, is born without both testes. However, the absence of both testes is rare, and the absence of one testis (unilateral anorchia or monorchidism) is more common. Within a few weeks of fertilization, the embryo develops rudimentary gonads. These gonads are responsible for producing hormones that play a key role in the development of the reproductive system. Within eight weeks of fertilization, the testes should develop, but if it fails to do so, then female genitals develop in the fetus.
Moreover, if the testes begin to develop during this time but fail to function between eight to ten weeks, then the fetus will have ambiguous genitals at birth (intersex people). In addition, if the testes are lost after fourteen weeks, then the baby will have partial male genitals with a major absence of gonads.
What Are the Other Names of Anorchia?
Anorchia is also called:
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Anorchism.
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Anorchidism.
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Vanishing testes syndrome.
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Congenital anorchia.
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Vanishing testes.
What Causes Anorchia?
The exact cause of anorchia is unknown, but it is believed to be a condition with several root causes (heterogeneous). It is speculated that congenital anorchia occurs due to spermatic vascular compromise because of possible trauma during or after testicular descent (testicular descent occurs after the fourth month of fetal life). The cause of anorchia is also associated with genetic factors.
What Is the Likelihood of Having Anorchia?
The chances of missing both tests are less common as compared to missing one of them. The prevalence of bilateral congenital anorchia is one in twenty-thousand males. And the chances of having unilateral congenital anorchia are one in five thousand males.
What Are the Types of Anorchia?
Anorchia can be of the following types:
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Congenital Anorchia: In this case, the condition is present at birth.
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Acquired Anorchia: This occurs when there is the surgical removal of the testes due to cancer, trauma, or infection.
Based on the number of missing testes, anorchia can be:
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Unilateral Anorchia: More common condition where one of the testes is absent. This condition is also known as monorchidism.
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Bilateral Anorchia: Rare condition characterized by the absence of both testes.
What Are the Symptoms of Anorchia?
The most common symptoms of anorchia include:
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Absence of testes.
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Weak bones.
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Low muscle mass.
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Absence of penis and pubic hair.
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Imaging tests like MRI (magnetic resonance imaging) will show the absence of gonadal tissues.
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Lack of male secondary sexual characteristics.
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Decreased anti-Mullerian hormone (a hormone responsible for growth differentiation and folliculogenesis) levels.
What Is the Difference Between Anorchia and Cryptorchidism?
Anorchia is defined as a condition in which both testes are absent. Cryptorchidism is a condition characterized by the failure of one or both of the testes to descend into the scrotum from the abdomen during development.
How Is Anorchia Diagnosed?
The diagnosis of anorchia is based on physical signs, clinical examination, and thorough medical history. Apart from these, the following tests are also done to confirm the diagnosis:
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Anti-Mullerian Hormone (AMH): These levels are checked, which are usually decreased in the case of anorchia. AMH is made in both male and female reproductive systems, and it is almost undetectable in the case of anorchia.
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Bone Density Levels: This is checked using an imaging test like an X-ray or a CT scan (computed tomography). The bone density levels are low in the case of anorchia.
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Blood Examinations: Blood examinations are done to check the levels of various hormones like the follicle-stimulating hormone, luteinizing hormone, testosterone, etc. The levels of follicle-stimulating hormone and luteinizing hormone are elevated, whereas the level of testosterone is usually decreased in the case of anorchia.
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XY Karyotype: This may be done. Karyotyping is a test to examine and study chromosomes in a sample cell.
Can Anorchia Be Prevented?
Congenital anorchia can not be prevented because it is a birth defect, and the child is born with it. The exact cause of the condition is also unknown, and multiple etiologies are thought to be the reason; therefore, no measures can be taken to rule out the possibility of developing the condition. However, anorchia due to surgery (acquired anorchia) can be prevented by not opting for the surgery (if the surgery is not required to treat a life-threatening condition).
What Are the Complications of Anorchia?
If left untreated, anorchia can develop the following complications:
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Infertility due to lack of gonadal tissues.
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Stress and psychological problems due to uncertain gender identification (gender dysphoria).
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Other physical abnormalities in some cases like problems in the face, neck, or back.
How Is Anorchia Treated?
The treatment modalities of anorchia include:
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Androgen supplement therapy to artificially start puberty. Testosterone replacement also initiates growth in the penile length in the case of micropenis. It is also helpful in developing male sexual characteristics like body hair, deepening of the voice, etc. Patients taking hormone replacement therapy will have to take the treatment lifelong.
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Prosthetic testicular implants may be given to replace the missing testes.
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The stress and psychological problems associated with gender dysphoria may also require treatment with cognitive therapy and psychological support.
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Unilateral anorchia generally does not require any treatment.
What Is the Prognosis of Anorchia?
The prognosis of anorchia depends upon the number of missing testes. Unilateral anorchia usually does not require any treatment, and there are still possibilities of conceiving a child with just one sperm-producing testis. However, in the case of bilateral anorchia, the only chance of reproducing is through assisted reproduction methods like sperm donation.
Conclusion:
Anorchia is a condition of a testicular abnormality characterized by the absence of testes. It is speculated to be a developmental defect, and the exact cause of the condition is unknown; however, the etiology is thought to be heterogeneous. The anorchia may be unilateral or bilateral, depending upon the number of missing testes. It can also be classified as congenital or acquired anorchia. The diagnosis of the condition requires multiple blood examinations to check for several hormone levels in the body (FSG, LH, testosterone). Anorchia treatment primarily comprises hormonal replacement therapy, replacement of the missing testes with an artificial testicular implant, and psychological support. The only serious complication of anorchia affecting the patient's quality of life is infertility, which comes along with bilateral anorchia.
