Androgen insensitivity syndrome, unspecified
ICD-10 E34.50 is a billable code used to indicate a diagnosis of androgen insensitivity syndrome, unspecified.
Androgen Insensitivity Syndrome (AIS) is a genetic condition that affects sexual development before birth and during puberty. Individuals with AIS are genetically male (XY chromosomes) but have a resistance to androgens, the hormones responsible for male characteristics. This results in the development of female physical traits despite having male genetic makeup. The severity of the condition can vary; some individuals may have a complete form of the syndrome, leading to the absence of male genitalia and the presence of female external genitalia, while others may have partial insensitivity, resulting in ambiguous genitalia. During puberty, individuals with complete AIS typically do not develop secondary male sexual characteristics, such as facial hair or a deep voice, and may present with primary amenorrhea. The condition is often diagnosed through physical examination, hormonal testing, and genetic testing. Management may involve psychological support, hormone replacement therapy, and surgical interventions, depending on the individual’s needs and the severity of the condition.
Thorough documentation of hormonal assays, physical examination findings, and genetic testing results.
Evaluation of patients with ambiguous genitalia, delayed puberty, or primary amenorrhea.
Endocrinologists must ensure that all hormonal levels are documented and interpreted correctly to support the diagnosis.
Detailed growth and development assessments, family history, and referral notes.
Assessment of children with suspected intersex conditions or abnormal sexual development.
Pediatricians should document any psychosocial impacts on the patient and family.
Used to evaluate androgen levels in suspected AIS.
Document the reason for testing and the patient's clinical history.
Endocrinologists should ensure that all relevant hormonal levels are assessed.
Complete androgen insensitivity syndrome results in female external genitalia and no male reproductive structures, while partial androgen insensitivity may present with ambiguous genitalia or some male characteristics.
