Other genetic causes of short stature
ICD-10 E34.328 is a billable code used to indicate a diagnosis of other genetic causes of short stature.
E34.328 refers to short stature resulting from various genetic factors that do not fall under more specific categories. Short stature can be a manifestation of several genetic syndromes, hormonal deficiencies, or chromosomal abnormalities. Conditions such as Turner syndrome, Noonan syndrome, and growth hormone deficiencies can lead to reduced height. Additionally, genetic causes may include disorders affecting the endocrine system, such as hypopituitarism or thyroid dysfunction, which can disrupt normal growth patterns. Genetic syndromes often present with other clinical features, including developmental delays, dysmorphic features, and organ system involvement. Accurate diagnosis typically requires a multidisciplinary approach, including genetic testing, hormonal evaluations, and growth assessments. Understanding the underlying genetic cause is crucial for management and treatment, which may involve hormone therapy or other interventions to promote growth and address associated health issues.
Detailed growth charts, family history of growth disorders, and results of genetic tests.
Evaluation of a child with unexplained short stature, referral for genetic counseling.
Ensure all relevant growth parameters are documented, including height, weight, and growth velocity.
Hormonal assay results, imaging studies, and comprehensive endocrine evaluations.
Management of a patient with suspected growth hormone deficiency or other endocrine disorders.
Document any interventions or therapies initiated, including hormone replacement therapy.
Used to evaluate suspected growth hormone deficiency in a child with short stature.
Document the reason for the test, patient history, and results.
Endocrinologists should ensure that all relevant growth parameters are included in the report.
Common genetic causes include Turner syndrome, Noonan syndrome, and growth hormone deficiencies. Each condition has distinct features and requires specific diagnostic approaches.
