Congenital absence of vulva
ICD-10 Q52.71 is a billable code used to indicate a diagnosis of congenital absence of vulva.
Congenital absence of the vulva, classified under Q52.71, refers to a rare condition where the external female genitalia are either partially or completely absent at birth. This condition can occur as an isolated anomaly or as part of a syndrome involving other congenital malformations. The absence of the vulva can lead to significant implications for sexual development, urinary function, and psychosocial well-being. It is essential to evaluate the patient for associated anomalies, particularly in the context of other genital malformations such as hypospadias, cryptorchidism, or ambiguous genitalia. The diagnosis is typically made through physical examination and may require imaging studies to assess internal structures. Management often involves a multidisciplinary approach, including pediatric urology, gynecology, and genetics, to address both the physical and emotional needs of the patient. Early intervention and appropriate surgical options can improve outcomes and quality of life for affected individuals.
Detailed history of the patient's congenital condition, including any associated anomalies and interventions.
Evaluation of newborns with ambiguous genitalia, management of hypospadias, and follow-up care for patients with congenital absence of vulva.
Consideration of psychosocial impacts on the patient and family, as well as the need for ongoing monitoring of growth and development.
Genetic testing results, family history of congenital conditions, and any syndromic associations.
Genetic counseling for families with a history of congenital malformations, assessment of chromosomal abnormalities in patients with genital anomalies.
Understanding the genetic basis of congenital absence of vulva and its potential syndromic associations.
Used in surgical management of congenital absence of vulva.
Document the indication for surgery and any associated findings.
Pediatric urologists and gynecologists should collaborate on surgical planning.
Common associated conditions include hypospadias, cryptorchidism, and other genital malformations. A thorough evaluation is necessary to identify any syndromic associations.
