Absence and aplasia of testis
ICD-10 Q55.0 is a billable code used to indicate a diagnosis of absence and aplasia of testis.
Absence and aplasia of testis refers to a congenital condition where one or both testes are absent or underdeveloped. This condition can result from various developmental anomalies during fetal growth, leading to incomplete descent or formation of the testes. The absence of testis can be associated with other congenital malformations, such as hypospadias, cryptorchidism, and ambiguous genitalia. In cases of unilateral absence, the remaining testis may undergo compensatory hypertrophy. The condition can also be linked to chromosomal abnormalities, such as Turner syndrome or Klinefelter syndrome, which may present with additional systemic features. Diagnosis typically involves physical examination, imaging studies, and hormonal evaluations to assess the presence of testicular tissue and associated genital development. Early diagnosis and management are crucial for optimizing reproductive health and psychosocial outcomes in affected individuals.
Detailed physical examination findings, including genital examination and any associated anomalies.
Evaluation of a newborn with ambiguous genitalia or a child presenting with delayed puberty.
Consideration of psychosocial impacts and the need for multidisciplinary care.
Genetic testing results, family history of congenital conditions, and any syndromic associations.
Referral for genetic counseling due to suspected chromosomal abnormalities.
Understanding the implications of genetic findings on management and family planning.
Surgical intervention for undescended testis, which may be relevant in cases of cryptorchidism.
Surgical notes detailing the procedure and findings.
Pediatric urology may be involved in the surgical management.
Absence of testis refers to the complete lack of testicular tissue, while cryptorchidism indicates that the testis is present but has not descended into the scrotum. Accurate coding requires clear documentation of the clinical findings.
