Name of the Condition

• Absence and Aplasia of Testis (Q55.0)
• Also referred to as Testicular Aplasia, Congenital Absence of Testis

Summary

Absence and aplasia of the testis is a congenital condition where one or both testes are missing or never developed. This can occur due to developmental issues before birth, leading to absent testicular tissue.

Causes

• Genetic anomalies or chromosomal abnormalities can lead to the condition.
• Developmental disruptions during pregnancy that affect testicular formation.
• The exact cause is often unknown but may be linked to factors affecting embryonic development.

Risk Factors

• Family history of similar congenital anomalies.
• Maternal exposure to certain chemicals or drugs during pregnancy.
• Genetic syndromes that include testicular aplasia as a feature.

Symptoms

• Absence of one or both testes in the scrotum.
• Possible absence of secondary sexual characteristics if bilateral absence occurs and affects hormone production.
• Undescended testicle (cryptorchidism) during childhood.

Diagnosis

• Physical examination to detect missing testes.
• Imaging studies, such as ultrasound or MRI, to confirm the absence of testicular tissue.
• Genetic testing may be conducted to identify underlying syndromes.

Treatment Options

• Hormone Replacement Therapy: If hormone production is affected, testosterone replacement may be necessary.
• Prosthetic Testicles: Surgical placement of testicular prosthetics for cosmetic appearance.
• Counseling and Support: Psychological support for coping with the condition.

Prognosis and Follow-Up

• Prognosis depends on the presence of one or both testes and any associated hormonal issues.
• Regular monitoring and follow-up to assess hormonal levels and development, especially during puberty.
• Fertility may be impacted if both testes are absent.

Complications

• Potential infertility if both testes are absent.
• Psychological impact due to cosmetic or identity concerns.
• Possible endocrine disorders if hormonal imbalance occurs.

Lifestyle & Prevention

• While the condition itself cannot be prevented, early detection and management can improve quality of life.
• Educating parents on potential genetic risks if there's a family history.

When to Seek Professional Help

• Any detection of an absent testis during a routine physical examination.
• Concerns regarding delayed puberty or development.
• Psychological distress related to the condition.

Additional Resources

• National Organization for Rare Disorders (NORD)
• American Urological Association (AUA)
• Support groups for individuals and families dealing with congenital testicular anomalies.

Tips for Medical Coders

• Ensure accurate coding by confirming the diagnosis with available medical records.
• Be aware of dual coding when the absence is related to genetic conditions or syndromes.
• Avoid confusing testicular aplasia (congenital absence) with conditions like testicular atrophy or undescended testis.