Complete androgen insensitivity syndrome
ICD-10 E34.51 is a billable code used to indicate a diagnosis of complete androgen insensitivity syndrome.
Complete androgen insensitivity syndrome (CAIS) is a genetic condition that affects sexual development before birth and during puberty. Individuals with CAIS are genetically male (XY chromosomes) but have a female phenotype due to the body's inability to respond to androgens, the hormones responsible for male sexual development. This insensitivity leads to the development of female external genitalia and the absence of male reproductive structures, such as the testes and vas deferens. During puberty, individuals with CAIS typically do not experience menstruation or develop secondary sexual characteristics associated with females, such as breast development, due to the lack of ovarian function. The condition is often diagnosed when a person presents with primary amenorrhea or is evaluated for inguinal hernias. CAIS is part of a spectrum of disorders known as androgen insensitivity syndromes, which can vary in severity. Management often involves psychological support, hormone replacement therapy, and surgical interventions for cosmetic or functional purposes. The condition is also associated with potential growth abnormalities and may require monitoring for other endocrine disorders.
Detailed hormonal assay results and genetic testing documentation.
Evaluation of patients with ambiguous genitalia or primary amenorrhea.
Consideration of psychological support and multidisciplinary management.
Growth charts and developmental milestones documentation.
Monitoring growth and development in children diagnosed with CAIS.
Coordination with endocrinology for hormone therapy management.
Used when biopsies are taken for histological examination of gonadal tissue.
Pathology report and clinical notes detailing the reason for biopsy.
Endocrinology and pathology collaboration for accurate diagnosis.
CAIS is primarily caused by mutations in the androgen receptor gene, which prevents the body from responding to male hormones (androgens).
