Congenital malformations of adrenal gland
ICD-10 Q89.1 is a billable code used to indicate a diagnosis of congenital malformations of adrenal gland.
Congenital malformations of the adrenal gland encompass a range of structural anomalies that can affect adrenal function and hormone production. These malformations may include agenesis, hypoplasia, or ectopic adrenal tissue. The adrenal glands, located atop each kidney, are crucial for producing hormones such as cortisol, aldosterone, and adrenaline, which are vital for metabolism, blood pressure regulation, and stress response. Congenital adrenal hyperplasia (CAH) is a common condition associated with adrenal malformations, often resulting from enzyme deficiencies that impair steroidogenesis. Clinical manifestations can vary widely, from asymptomatic cases to severe adrenal insufficiency, ambiguous genitalia in females, and electrolyte imbalances. Diagnosis typically involves imaging studies, hormonal assays, and genetic testing to identify underlying genetic mutations. Early recognition and management are essential to prevent life-threatening adrenal crises and to address associated metabolic disturbances.
Pediatric documentation should include growth parameters, developmental milestones, and specific hormonal assessments relevant to adrenal function.
Common scenarios include newborn screening for CAH, management of adrenal crises, and follow-up for growth and development in affected children.
Considerations include the need for ongoing monitoring of hormone levels and potential impacts on growth and development.
Genetic documentation should include family history, results of genetic testing, and any identified mutations associated with adrenal malformations.
Genetic counseling for families with a history of congenital adrenal hyperplasia and discussions regarding inheritance patterns.
Considerations include the implications of genetic findings on treatment options and family planning.
Used to evaluate adrenal function in patients with suspected adrenal malformations.
Document the reason for testing and any relevant clinical findings.
Endocrinology may require additional documentation regarding hormone replacement therapy.
Common symptoms include ambiguous genitalia in females, adrenal crises, electrolyte imbalances, and growth delays. Symptoms can vary based on the specific malformation and associated hormonal deficiencies.
