Partial androgen insensitivity syndrome
ICD-10 E34.52 is a billable code used to indicate a diagnosis of partial androgen insensitivity syndrome.
Partial androgen insensitivity syndrome (PAIS) is a genetic condition resulting from mutations in the androgen receptor gene, leading to a reduced response to androgens (male hormones) during fetal development and puberty. Individuals with PAIS may present with ambiguous genitalia at birth or may be raised as females despite having XY chromosomes. During puberty, affected individuals may experience incomplete virilization, leading to a range of physical characteristics that can include underdeveloped male genitalia, gynecomastia, and varying degrees of breast development. The condition can also be associated with other endocrine disorders, such as hypogonadism and growth abnormalities, due to the complex interplay of hormones. Diagnosis typically involves clinical evaluation, hormonal assays, and genetic testing. Management may include hormone replacement therapy and surgical interventions to address physical anomalies. Understanding PAIS is crucial for addressing the psychosocial aspects of the condition, as individuals may face challenges related to gender identity and sexual development.
Detailed hormonal assay results, genetic testing outcomes, and treatment plans.
Management of hormonal therapy, monitoring of growth and development, and addressing psychosocial issues.
Endocrinologists must ensure that all hormonal levels are documented accurately to support the diagnosis.
Surgical notes, imaging studies, and follow-up assessments.
Surgical correction of ambiguous genitalia and management of urinary tract issues.
Urologists should document the rationale for surgical interventions and any complications.
Used to assess testosterone levels in patients suspected of having PAIS.
Document the reason for testing and the patient's clinical history.
Endocrinologists should ensure that all relevant hormonal levels are included in the assessment.
PAIS is primarily caused by mutations in the androgen receptor gene, which leads to a reduced response to androgens during development.
