Agenesis and aplasia of uterus
ICD-10 Q51.0 is a billable code used to indicate a diagnosis of agenesis and aplasia of uterus.
Agenesis and aplasia of the uterus refers to the congenital absence or underdevelopment of the uterus, which can occur as an isolated condition or as part of a syndrome involving other malformations. This condition is often diagnosed in females during adolescence or early adulthood when menstruation does not occur. The absence of the uterus can lead to primary amenorrhea and infertility. Agenesis can be complete, where the uterus is entirely absent, or partial, where there may be rudimentary structures present. Associated anomalies may include renal agenesis, vaginal malformations, and other genital tract abnormalities. The condition can be linked to genetic syndromes such as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, which also involves renal and skeletal anomalies. Diagnosis typically involves imaging studies such as ultrasound or MRI to assess the presence and structure of the uterus and associated organs. Management may include psychological support, fertility treatment options, and surgical interventions if necessary.
Documentation should include growth and development assessments, family history, and any associated congenital anomalies.
Common scenarios include evaluation of primary amenorrhea in adolescents and assessment of associated renal anomalies.
Consideration of psychosocial impacts on the patient and family, as well as the need for multidisciplinary care.
Genetic testing results, family history of congenital anomalies, and any syndromic associations should be documented.
Scenarios may include genetic counseling for families with a history of MRKH syndrome or other related conditions.
Understanding the genetic basis of the condition and implications for family planning.
Used in cases where surgical intervention is necessary for associated conditions.
Document indication for surgery and any associated findings.
Considerations for pediatric patients and potential fertility implications.
Agenesis refers to the complete absence of the uterus, while aplasia indicates that the uterus is present but underdeveloped. Both conditions can lead to similar clinical presentations, such as primary amenorrhea and infertility.
