E34.51
Complete androgen insensitivity syndrome
Clinical Classification Guidelines
Inclusion Terms
- Complete androgen insensitivity
- de Quervain syndrome
- Goldberg-Maxwell syndrome
Medical Intelligence & Overview
Complete Androgen Insensitivity Syndrome (AIS), classified under ICD-10 code E34.51, is a condition that affects the development of males' reproductive organs and physical traits. Individuals with this syndrome are genetically male but develop female characteristics due to the body's inability to respond to androgens, the hormones responsible for male traits. This condition typically presents during puberty and can influence physical development, reproductive health, and hormonal balance. It's a rare condition that requires awareness and understanding to support affected individuals effectively.
Causes & Symptoms
Clinical Causes: Mutations in the androgen receptor gene on the X chromosome Genetic inheritance from carrier parents Disrupted function of androgen receptors, preventing hormonal signals from working properly
Key Symptoms: Lack of pubic and underarm hair development Absence of menstrual periods (amenorrhea) Undescended testes located within the abdomen or pelvis Typical female external genitalia, including a vaginal canal No development of secondary sexual characteristics such as breast growth Potential for tall stature and a more pliable build
Diagnostic & Treatment
Diagnosis Path: Physical examination to assess external genitalia and secondary sexual characteristics Hormonal testing to measure levels of testosterone, luteinizing hormone, and other sex hormones Genetic testing to identify mutations in the androgen receptor gene Ultrasound or MRI scans to locate undescended testes Karyotype analysis revealing 46,XY chromosomal pattern despite female phenotype
Treatment Protocols: Psychosocial support and counseling to help individuals understand their condition Surgical intervention to remove undescended testes, which may carry a small risk of developing into cancer Hormonal therapy to support puberty and secondary sexual characteristic development if desired Regular monitoring for potential health concerns related to gonadal tissue Long-term healthcare planning that respects the individual's gender identity and personal preferences
Clinical Advice & FAQs
Billing Guidance
Is E34.51 a billable ICD-10 code?
Yes, E34.51 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E34.51?
Clinical documentation must specify the nature of Complete androgen insensitivity syndrome and any associated comorbidities for accurate reporting.
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