Genetic causes of short stature
ICD-10 E34.32 is a billable code used to indicate a diagnosis of genetic causes of short stature.
Genetic causes of short stature encompass a variety of conditions that lead to reduced height due to hereditary factors. These conditions can include chromosomal abnormalities, such as Turner syndrome and Down syndrome, as well as single-gene disorders like achondroplasia. Genetic short stature can also be associated with endocrine disorders, including growth hormone deficiencies and thyroid dysfunctions. In some cases, polyglandular dysfunction may contribute to growth abnormalities, where multiple endocrine glands are affected, leading to a cascade of hormonal imbalances that hinder normal growth. Additionally, thymus disorders can impact immune function and overall health, indirectly affecting growth patterns. The diagnosis of genetic short stature typically involves a thorough clinical evaluation, including family history, physical examination, and genetic testing to identify specific mutations or chromosomal anomalies. Understanding the underlying genetic causes is crucial for developing appropriate management strategies and providing genetic counseling to affected families.
Detailed growth charts, family history, and results of genetic tests.
Evaluation of a child with unexplained short stature, referral for genetic counseling.
Ensure accurate recording of growth patterns over time and any associated symptoms.
Hormonal assay results, imaging studies, and comprehensive endocrine evaluations.
Management of growth hormone deficiency or other endocrine disorders contributing to short stature.
Document any interventions or treatments that may affect growth outcomes.
Used when a child presents with short stature and is suspected of having achondroplasia.
Results of genetic testing must be documented in the medical record.
Pediatric geneticists should ensure comprehensive family history is included.
Common genetic causes include Turner syndrome, achondroplasia, and other chromosomal abnormalities. Each condition has specific features that can help in diagnosis.
