Q97.3 Female with 46, XY karyotype

ICD10CM code

#### Name of the Condition
- Female with 46, XY karyotype
- Also referred to as XY gonadal dysgenesis or Swyer syndrome in specific contexts.

#### Summary
- This condition occurs when an individual has a female phenotype with a typical male chromosome pattern of 46, XY. Despite having XY chromosomes, individuals with this karyotype develop as females due to the body's inability to respond to male hormones, leading to female physical characteristics without functional reproductive organs.

#### Causes
- The condition is primarily caused by genetic mutations that affect the development of male characteristics and gonadal formation. Commonly, mutations in the SRY gene or other genes involved in sex determination and differentiation can lead to this condition.

#### Risk Factors
- Genetic predisposition is the primary risk factor, although a family history of disorders of sexual development could potentially increase risk.

#### Symptoms
- Individuals may exhibit delayed or absent puberty, underdeveloped gonads, or infertility. They typically have a female external appearance but may lack fully developed internal reproductive organs.

#### Diagnosis
- Diagnosis often includes karyotyping to confirm the presence of 46, XY chromosomes, along with hormonal evaluations and imaging studies of the reproductive organs.

#### Treatment Options
- Treatment may involve hormone replacement therapy to induce secondary sexual characteristics. In some cases, surgical procedures may be considered to address any anatomical concerns or to remove gonadal tissues that have a risk of cancer.

#### Prognosis and Follow-Up
- With appropriate hormonal treatment and medical care, individuals can lead healthy lives. Regular follow-up is important to monitor hormone levels and any potential complications.

#### Complications
- If left untreated, individuals may experience issues like osteoporosis due to low estrogen levels. There is also an increased risk of gonadal tumors.

#### Lifestyle & Prevention
- While prevention of the genetic condition itself isn't possible, maintaining a healthy lifestyle and adhering to treatment plans can help manage symptoms and reduce the risk of complications.

#### When to Seek Professional Help
- Seek medical advice if there is a lack of pubertal development by the expected age, or if there are concerns about reproductive health or unexplained symptoms related to puberty.

#### Additional Resources
- GeneReviews (NIH)
- Androgen Insensitivity Syndrome Support Group

#### Tips for Medical Coders
- Ensure accurate coding by confirming the karyotype (46, XY) and phenotypic presentation.
- Avoid confusing this condition with other forms of intersex or disorders of sex development that may have similar characteristics but different genetic profiles.

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