Congenital adrenogenital disorders associated with enzyme deficiency
ICD-10 E25.0 is a billable code used to indicate a diagnosis of congenital adrenogenital disorders associated with enzyme deficiency.
Congenital adrenogenital disorders associated with enzyme deficiency are a group of inherited conditions characterized by enzyme deficiencies that disrupt the normal production of adrenal hormones, particularly cortisol and aldosterone. These disorders often result from genetic mutations affecting enzymes involved in steroidogenesis, leading to an overproduction of adrenal androgens. Clinically, patients may present with ambiguous genitalia, early virilization in females, and adrenal crisis due to cortisol deficiency. The most common enzyme deficiencies include 21-hydroxylase deficiency, which accounts for the majority of cases. Diagnosis typically involves biochemical testing to measure hormone levels and genetic testing to identify specific enzyme deficiencies. Management may include hormone replacement therapy and surgical intervention for anatomical anomalies. Early diagnosis and treatment are crucial to prevent complications such as adrenal crisis and to manage the associated symptoms effectively.
Detailed hormone level assessments, genetic testing results, and treatment plans.
Diagnosis of congenital adrenal hyperplasia, management of adrenal crisis, and monitoring of hormone replacement therapy.
Endocrinologists must ensure accurate documentation of all hormonal assays and clinical findings to support coding.
Growth and development assessments, family history of endocrine disorders, and detailed physical examination findings.
Evaluation of ambiguous genitalia in newborns and management of early virilization in female infants.
Pediatricians should document any developmental milestones and parental concerns to provide context for the diagnosis.
Used to confirm adrenal insufficiency in patients suspected of having congenital adrenal disorders.
Document the reason for testing and any relevant clinical findings.
Endocrinologists should ensure that all hormone levels are documented to support diagnosis.
Common symptoms include ambiguous genitalia in females, early virilization in males, adrenal crisis, and signs of adrenal insufficiency such as fatigue, weight loss, and low blood pressure.
